Diseases in DAR

DiseaseID OMIM Orphanet DiseaseName
MONDO:0009871 OMIM:261990 Orphanet:2891 pili torti-developmental delay-neurological abnormalities syndrome
MONDO:0010155 OMIM:275630 Orphanet:98907 Dorfman-Chanarin disease
MONDO:0012161 OMIM:608957 Orphanet:169085 susceptibility to respiratory infections associated with CD8alpha chain mutation
MONDO:0010275 OMIM:300232 Orphanet:168448 spondyloepimetaphyseal dysplasia, Bieganski type
MONDO:0009192 OMIM:226980 Orphanet:1667 Wolcott-Rallison syndrome
MONDO:0012248 OMIM:609308 Orphanet:86812 autosomal recessive limb-girdle muscular dystrophy type 2K
MONDO:0011532 OMIM:605280 Orphanet:100994 hereditary spastic paraplegia 13
MONDO:0018794 OMIM:618372 Orphanet:477787 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
MONDO:0008959 OMIM:214350 Orphanet:1401 CHAND syndrome
MONDO:0007088 - Orphanet:1020 Alzheimer disease type 1
MONDO:0010438 OMIM:300818 Orphanet:447 paroxysmal nocturnal hemoglobinuria 1
MONDO:0014124 OMIM:615297 Orphanet:974 Adams-Oliver syndrome 4
MONDO:0009514 OMIM:245800 Orphanet:2377 Laurence-Moon syndrome
MONDO:0014897 - - obsolete portal hypertension, noncirrhotic
MONDO:0000087 - Orphanet:35981 polymicrogyria
MONDO:0034106 OMIM:618379 Orphanet:544503 developmental and epileptic encephalopathy, 73
MONDO:0010313 OMIM:300387 - intellectual disability, X-linked 63
MONDO:0013219 OMIM:613312 Orphanet:289176 hypophosphatemic rickets, autosomal recessive, 2
MONDO:0030967 OMIM:619196 - deafness, congenital, and adult-onset progressive leukoencephalopathy
MONDO:0016596 OMIM:616809 Orphanet:247262 hyperphosphatasia-intellectual disability syndrome
MONDO:0019349 OMIM:617169 Orphanet:821 Sotos syndrome
MONDO:0013128 OMIM:613092 Orphanet:217330 familial juvenile hyperuricemic nephropathy type 2
MONDO:0019774 OMIM:309580 Orphanet:93970 Holmes-Gang syndrome
MONDO:0015241 - Orphanet:1149 arthrogryposis-like syndrome
MONDO:0008145 OMIM:166000 Orphanet:296 Ollier disease
MONDO:0014959 OMIM:617184 - mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
MONDO:0020357 - Orphanet:98946 coloboma of eyelid
MONDO:0014665 OMIM:616491 Orphanet:447964 Charcot-Marie-Tooth disease axonal type 2V
MONDO:0009901 OMIM:263650 Orphanet:1234 Bartsocas-Papas syndrome
MONDO:0015196 - Orphanet:1053 vein of Galen aneurysm
MONDO:0020775 OMIM:618005 - congenital disorder of glycosylation with defective fucosylation 1
MONDO:0015469 OMIM:615529 Orphanet:1531 craniosynostosis
MONDO:0014696 OMIM:616570 Orphanet:191 cerebrooculofacioskeletal syndrome 3
MONDO:0009864 OMIM:261650 Orphanet:79317 phosphoenolpyruvate carboxykinase deficiency, mitochondrial
MONDO:0010916 OMIM:600666 Orphanet:730 polycystic kidney disease 3 with or without polycystic liver disease
MONDO:0017174 - Orphanet:276238 Machado-Joseph disease type 1
MONDO:0009287 OMIM:232200 Orphanet:79258 glycogen storage disease due to glucose-6-phosphatase deficiency type IA
MONDO:0014019 OMIM:615034 Orphanet:420485 dystonia 24
MONDO:0007774 OMIM:145290 - hyperreflexia
MONDO:0018881 OMIM:614286 Orphanet:52688 myelodysplastic syndrome
MONDO:0010968 OMIM:600975 Orphanet:98976 glaucoma 3, primary infantile, B
MONDO:8000012 OMIM:616263 Orphanet:456312 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
MONDO:0011176 OMIM:602014 Orphanet:30924 intestinal hypomagnesemia 1
MONDO:0013874 OMIM:614736 Orphanet:361 glucocorticoid deficiency 4
MONDO:0005518 - - pseudohermaphroditism
MONDO:0010533 OMIM:301835 Orphanet:1187 Arts syndrome
MONDO:0001008 - - blepharophimosis
MONDO:0013919 OMIM:614847 - epilepsy, idiopathic generalized, susceptibility to, 12
MONDO:0012505 OMIM:610475 Orphanet:189439 pigmented nodular adrenocortical disease, primary, 2
MONDO:0009428 OMIM:241510 Orphanet:436 obsolete childhood hypophosphatasia
MONDO:0015986 - Orphanet:1848 bilateral renal agenesis
MONDO:0042977 OMIM:601606 Orphanet:867 trichoepithelioma, multiple familial, 1
MONDO:0011291 OMIM:603147 Orphanet:79320 congenital disorder of glycosylation type 1C
MONDO:0020478 OMIM:500001 Orphanet:99718 Leber plus disease
MONDO:0014660 OMIM:616486 Orphanet:2512 microcephaly 15, primary, autosomal recessive
MONDO:0013425 OMIM:613794 - retinitis pigmentosa 20
MONDO:0013349 OMIM:613661 Orphanet:280071 ALG11-CDG
MONDO:0013776 OMIM:614487 Orphanet:313772 spastic ataxia 5
MONDO:0044792 OMIM:137550 Orphanet:626 large congenital melanocytic nevus
MONDO:0011558 OMIM:605472 Orphanet:886 Usher syndrome type 2C
MONDO:0012670 OMIM:611451 - autosomal recessive nonsyndromic hearing loss 63
MONDO:0018662 OMIM:271630 Orphanet:448242 autosomal recessive brachyolmia
MONDO:0014731 OMIM:616682 Orphanet:466926 seizures-scoliosis-macrocephaly syndrome
MONDO:0013444 OMIM:613824 Orphanet:655 nephronophthisis 9
MONDO:0007915 OMIM:614420 Orphanet:536 systemic lupus erythematosus
MONDO:0014950 OMIM:617168 - aortic aneurysm, familial thoracic 10
MONDO:0014387 OMIM:615889 - leukoencephalopathy, progressive, with ovarian failure
MONDO:0018466 - - obsolete hereditary late onset Parkinson disease
MONDO:0009479 OMIM:260450 Orphanet:2315 Johanson-Blizzard syndrome
MONDO:0009642 OMIM:252100 Orphanet:2751 orofaciodigital syndrome type II
MONDO:0032678 OMIM:618328 - developmental and epileptic encephalopathy, 71
MONDO:0007745 OMIM:143500 Orphanet:357 Gilbert syndrome
MONDO:0027068 OMIM:500014 - mitochondrial complex 1 deficiency, mitochondrial type 1
MONDO:0009492 OMIM:245050 Orphanet:832 succinyl-CoA:3-ketoacid CoA transferase deficiency
MONDO:0007788 OMIM:145750 - hypertriglyceridemia, familial
MONDO:0014409 OMIM:615942 - intellectual disability, autosomal recessive 44
MONDO:0010355 OMIM:300534 Orphanet:85279 syndromic X-linked intellectual disability Claes-Jensen type
MONDO:0012787 OMIM:612020 Orphanet:139480 hereditary spastic paraplegia 39
MONDO:0013878 OMIM:614742 Orphanet:88 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
MONDO:0014827 OMIM:616907 Orphanet:488594 autosomal recessive spastic paraplegia type 76
MONDO:0018894 - Orphanet:53739 distal hereditary motor neuropathy
MONDO:0100058 OMIM:618850 - hypervalinemia and hyperleucine-isoleucinemia
MONDO:0009644 OMIM:252160 Orphanet:99732 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
MONDO:0012996 OMIM:612718 Orphanet:35704 AGAT deficiency
MONDO:0010480 OMIM:300908 Orphanet:466026 anemia, nonspherocytic hemolytic, due to G6PD deficiency
MONDO:0011890 OMIM:607678 Orphanet:101084 Charcot-Marie-Tooth disease type 1D
MONDO:0012901 OMIM:612423 Orphanet:749 inherited prekallikrein deficiency
MONDO:0014140 OMIM:615350 Orphanet:588 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
MONDO:0012405 OMIM:610069 Orphanet:157794 polyposis syndrome, hereditary mixed, 2
MONDO:0016605 OMIM:241500 Orphanet:247623 perinatal lethal hypophosphatasia
MONDO:0007488 OMIM:127750 Orphanet:1648 Lewy body dementia
MONDO:0011257 OMIM:602579 Orphanet:79319 MPI-CDG
MONDO:0018055 - Orphanet:33402 pediatric hepatocellular carcinoma
MONDO:0021163 - - kidney neoplasm
MONDO:0014982 OMIM:617238 - myopia 25, autosomal dominant
MONDO:0032574 OMIM:618167 - osteochondrodysplasia, brachydactyly, and overlapping malformed digits
MONDO:0011503 OMIM:604931 Orphanet:168588 cortisone reductase deficiency 1
MONDO:0012945 OMIM:612577 Orphanet:803 amyotrophic lateral sclerosis type 11
MONDO:0014227 OMIM:615522 Orphanet:324561 hypopigmentation-punctate palmoplantar keratoderma syndrome
MONDO:0054750 OMIM:617892 - amyotrophic lateral sclerosis, susceptibility to, 24
MONDO:0032684 OMIM:618336 - intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
MONDO:0033642 OMIM:619075 - neurodevelopmental disorder with alopecia and brain abnormalities
MONDO:0019267 OMIM:251000 Orphanet:79312 vitamin B12-unresponsive methylmalonic acidemia type mut-
MONDO:0017288 OMIM:601200 Orphanet:284343 DICER1 syndrome
MONDO:0013722 OMIM:614381 Orphanet:88637 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
MONDO:0013661 OMIM:614265 Orphanet:289504 combined malonic and methylmalonic acidemia
MONDO:0013423 OMIM:613791 Orphanet:331187 immunodeficiency due to MASP-2 deficiency
MONDO:0005611 - - bladder transitional cell carcinoma
MONDO:0015554 - Orphanet:158766 typical urticaria pigmentosa
MONDO:0008379 OMIM:180105 - retinitis pigmentosa 10
MONDO:0014343 OMIM:615777 Orphanet:1425 Desbuquois dysplasia 2
MONDO:0012163 OMIM:608971 Orphanet:169160 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
MONDO:0016316 - Orphanet:217093 mucopolysaccharidosis type 2, attenuated form
MONDO:0011395 OMIM:604116 - cone-rod dystrophy 3
MONDO:0027451 OMIM:617403 Orphanet:357074 autosomal recessive cutis laxa type 2D
MONDO:0013437 OMIM:613810 - retinitis pigmentosa 43
MONDO:0009274 OMIM:231095 Orphanet:1802 ghosal hematodiaphyseal dysplasia
MONDO:0017054 OMIM:248600 Orphanet:268184 thiamine-responsive maple syrup urine disease
MONDO:0014992 OMIM:617255 - lissencephaly 8
MONDO:0017812 - Orphanet:314662 segmental progressive overgrowth syndrome with fibroadipose hyperplasia
MONDO:0009656 OMIM:252920 Orphanet:79270 Sanfilippo syndrome type B
MONDO:0008416 OMIM:181600 Orphanet:384 palmoplantar keratoderma-sclerodactyly syndrome
MONDO:0007400 OMIM:123150 Orphanet:1540 Jackson-Weiss syndrome
MONDO:0010947 OMIM:600880 Orphanet:131 Budd-Chiari syndrome
MONDO:0002281 - - macrocytic anemia
MONDO:0009354 OMIM:236270 Orphanet:622 methylcobalamin deficiency type cblE
MONDO:0014222 OMIM:615513 Orphanet:397596 immunodeficiency 14
MONDO:0009919 OMIM:264470 Orphanet:2971 peroxisomal acyl-CoA oxidase deficiency
MONDO:0011759 OMIM:607015 Orphanet:93476 Hurler-Scheie syndrome
MONDO:0009340 OMIM:235700 Orphanet:90031 non-spherocytic hemolytic anemia due to hexokinase deficiency
MONDO:0044318 OMIM:617450 - intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
MONDO:0018852 OMIM:616517 Orphanet:49382 achromatopsia
MONDO:0012872 OMIM:612348 - thrombophilia, familial, due to decreased release of tissue plasminogen activator
MONDO:0027407 OMIM:610253 - Kleefstra syndrome 1
MONDO:0009291 OMIM:232400 Orphanet:366 glycogen storage disease III
MONDO:0017402 OMIM:610193 Orphanet:293899 familial isolated arrhythmogenic ventricular dysplasia, biventricular form
MONDO:0011234 OMIM:602483 Orphanet:137888 auriculocondylar syndrome 1
MONDO:0032653 OMIM:618280 - cardiac-urogenital syndrome
MONDO:0011338 OMIM:603554 Orphanet:39041 Omenn syndrome
MONDO:0010788 OMIM:535000 Orphanet:104 Leber hereditary optic neuropathy
MONDO:0017268 - Orphanet:281127 acral self-healing collodion baby
MONDO:0007037 OMIM:100800 Orphanet:15 achondroplasia
MONDO:0000561 - Orphanet:98770 spinocerebellar ataxia type 16
MONDO:0013835 OMIM:614643 Orphanet:899 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7
MONDO:0009890 OMIM:263210 Orphanet:79328 Gillessen-Kaesbach-Nishimura syndrome
MONDO:0014187 OMIM:615436 Orphanet:91387 aortic aneurysm, familial thoracic 8
MONDO:0029135 OMIM:618135 - muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
MONDO:0014007 OMIM:615010 Orphanet:51 Aicardi-Goutieres syndrome 6
MONDO:0007908 OMIM:151800 Orphanet:2398 multiple symmetric lipomatosis
MONDO:0031446 OMIM:607748 Orphanet:238475 hypercholanemia, familial 1
MONDO:0054754 OMIM:617900 - encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
MONDO:8000015 OMIM:273250 - 46,XY sex reversal 11
MONDO:0008304 OMIM:176430 - premature chromatid separation trait
MONDO:0018159 OMIM:615008 Orphanet:357008 atypical hemolytic-uremic syndrome with DGKE deficiency
MONDO:0019192 - Orphanet:79085 AKT2-related familial partial lipodystrophy
MONDO:0018227 - Orphanet:36412 hypocomplementemic urticarial vasculitis
MONDO:0014567 OMIM:616281 Orphanet:477673 glutamate pyruvate transaminase 2 deficiency
MONDO:0014976 OMIM:617228 Orphanet:478049 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
MONDO:0008234 OMIM:171400 Orphanet:653 multiple endocrine neoplasia type 2A
MONDO:0015010 OMIM:617301 Orphanet:289863 atypical glycine encephalopathy
MONDO:0021094 - - immunodeficiency disease
MONDO:0013970 OMIM:614923 Orphanet:308410 branched-chain keto acid dehydrogenase kinase deficiency
MONDO:0005514 OMIM:615972 Orphanet:35612 nanophthalmia
MONDO:0011905 - - obsolete familial hypercholanemia
MONDO:0016575 OMIM:617092 Orphanet:244 primary ciliary dyskinesia
MONDO:0100213 OMIM:308205 Orphanet:85284 IFAP syndrome with or without BRESHECK syndrome
MONDO:0008814 OMIM:207800 Orphanet:90 hyperargininemia
MONDO:0014349 OMIM:615803 Orphanet:411493 pontocerebellar hypoplasia type 10
MONDO:0049223 OMIM:301014 - osteogenesis imperfecta, type 19
MONDO:0016815 OMIM:616277 Orphanet:255241 Leigh syndrome with leukodystrophy
MONDO:0032572 OMIM:618164 - cardiac, facial, and digital anomalies with developmental delay
MONDO:0014071 OMIM:615181 Orphanet:899 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
MONDO:0008769 OMIM:204500 Orphanet:79264 neuronal ceroid lipofuscinosis 2
MONDO:0014056 OMIM:615134 Orphanet:618 melanoma, cutaneous malignant, susceptibility to, 9
MONDO:0007744 OMIM:614028 Orphanet:79506 cholesterol-ester transfer protein deficiency
MONDO:0008156 OMIM:166600 Orphanet:53 autosomal dominant osteopetrosis 2
MONDO:0014989 OMIM:617251 - uncombable hair syndrome 2
MONDO:0002974 OMIM:603956 - cervical cancer
MONDO:0011143 OMIM:601777 - cone-rod dystrophy 6
MONDO:0011098 OMIM:601518 - prostate cancer, hereditary, 1
MONDO:0016809 OMIM:607459 Orphanet:254881 spinocerebellar ataxia with epilepsy
MONDO:0014322 OMIM:615724 - premature ovarian failure 9
MONDO:0010940 OMIM:600807 - inherited susceptibility to asthma
MONDO:0014038 OMIM:615083 - colorectal cancer, susceptibility to, 12
OMIM:145400 OMIM:145400 - HYPERTELORISM
MONDO:0003669 OMIM:273300 Orphanet:842 testicular seminoma
MONDO:0100224 OMIM:252010 Orphanet:2609 mitochondrial complex I deficiency, nuclear type 1
MONDO:0013290 OMIM:613506 Orphanet:33110 agammaglobulinemia 5, autosomal dominant
MONDO:0019083 OMIM:256000 Orphanet:70474 Leigh syndrome with cardiomyopathy
MONDO:0018177 OMIM:613029 Orphanet:360 glioblastoma
MONDO:0033260 OMIM:617663 - hearing loss, autosomal dominant 73
MONDO:0016225 - Orphanet:211047 specific learning disability
MONDO:0014911 OMIM:617093 Orphanet:541423 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
MONDO:0007354 OMIM:120430 Orphanet:35737 coloboma of optic nerve
MONDO:0013806 OMIM:614564 Orphanet:313846 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
MONDO:0044625 - Orphanet:487814 autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation
MONDO:0044704 - Orphanet:500478 oropharynx squamous cell carcinoma
MONDO:0008998 OMIM:216411 Orphanet:90324 Cockayne syndrome type 3
MONDO:0014177 OMIM:615420 - myopia 22, autosomal dominant
MONDO:0054782 OMIM:617951 - leukodystrophy, hypomyelinating, 15
MONDO:0024607 OMIM:617404 - congenital muscular dystrophy with cataracts and intellectual disability
MONDO:0033614 OMIM:619027 - spastic paraplegia 83, autosomal recessive
MONDO:0008056 OMIM:160900 Orphanet:273 myotonic dystrophy type 1
MONDO:0008764 OMIM:204000 - Leber congenital amaurosis 1
MONDO:0009613 OMIM:251100 Orphanet:79310 vitamin B12-responsive methylmalonic acidemia type cblA
MONDO:0044740 OMIM:275355 Orphanet:500481 salivary gland squamous cell carcinoma
MONDO:0018507 - Orphanet:423894 microcephaly-complex motor and sensory axonal neuropathy syndrome
MONDO:0008318 OMIM:176920 Orphanet:744 Proteus syndrome
MONDO:0009111 OMIM:222748 Orphanet:38874 dihydropyrimidinuria
MONDO:0019454 - Orphanet:86839 myelodysplastic syndrome with excess blasts
MONDO:0015016 OMIM:617315 - anterior segment dysgenesis 6
MONDO:0013155 OMIM:613151 Orphanet:370959 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
MONDO:0032895 OMIM:618744 - developmental and epileptic encephalopathy, 83
MONDO:0032752 OMIM:618437 - developmental and epileptic encephalopathy, 75
MONDO:0013837 OMIM:614651 Orphanet:254898 deafness-encephaloneuropathy-obesity-valvulopathy syndrome
MONDO:0019779 OMIM:309580 Orphanet:93975 Renier-Gabreels-Jasper syndrome
MONDO:0014062 OMIM:615156 Orphanet:352470 mitochondrial DNA deletion syndrome with progressive myopathy
MONDO:0015924 - Orphanet:182090 pulmonary arterial hypertension
MONDO:0009704 OMIM:255110 Orphanet:228302 carnitine palmitoyl transferase II deficiency, myopathic form
MONDO:0011436 OMIM:604320 Orphanet:98920 autosomal recessive distal spinal muscular atrophy 1
MONDO:0034121 OMIM:618321 Orphanet:555402 NAD(P)HX dehydratase deficiency
MONDO:0008542 OMIM:187500 Orphanet:3303 tetralogy of fallot
MONDO:0009410 - - obsolete Addison disease
MONDO:0054748 OMIM:617883 - Fanconi anemia, complementation group S
MONDO:0019335 - Orphanet:79651 mild hyperphenylalaninemia
MONDO:0012173 OMIM:609016 Orphanet:5 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
MONDO:0030893 OMIM:619147 - leukoencephalopathy, progressive, infantile-onset, with or without deafness
MONDO:0010130 OMIM:274270 Orphanet:1675 dihydropyrimidine dehydrogenase deficiency
MONDO:0018766 - Orphanet:468641 chronic enteropathy associated with SLCO2A1 gene
MONDO:0019756 OMIM:610829 Orphanet:93924 lobar holoprosencephaly
MONDO:0030037 OMIM:618879 - neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
MONDO:0014613 OMIM:616373 Orphanet:2032 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
MONDO:0060490 OMIM:617481 - neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
MONDO:0026782 - - obsolete chondrodysplasia punctata 2, X-linked dominant
MONDO:0012926 OMIM:612529 Orphanet:100033 amelogenesis imperfecta hypomaturation type 2A2
MONDO:0013165 OMIM:613162 Orphanet:320396 hereditary spastic paraplegia 45
MONDO:0011604 OMIM:605822 Orphanet:85194 spondylo-ocular syndrome
MONDO:0009696 OMIM:614280 Orphanet:307 juvenile myoclonic epilepsy
MONDO:0006065 OMIM:223100 Orphanet:319681 lactose intolerance adult type
MONDO:0024566 OMIM:614418 Orphanet:165805 febrile seizures, familial, 11
OMIM:619311 OMIM:619311 - HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME
MONDO:0015780 OMIM:616353 Orphanet:1775 dyskeratosis congenita
MONDO:0018655 OMIM:607694 Orphanet:447893 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
MONDO:0011240 OMIM:602501 Orphanet:60040 megalencephaly-capillary malformation-polymicrogyria syndrome
MONDO:0009657 OMIM:252930 Orphanet:79271 Sanfilippo syndrome type C
MONDO:0008723 OMIM:201475 Orphanet:26793 very long chain acyl-CoA dehydrogenase deficiency
MONDO:0003789 OMIM:605074 Orphanet:47044 hereditary papillary renal cell carcinoma
MONDO:0012582 OMIM:610921 Orphanet:440402 interstitial lung disease due to ABCA3 deficiency
MONDO:0013400 OMIM:613743 Orphanet:168558 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
MONDO:0009711 OMIM:300580 Orphanet:2020 congenital fiber-type disproportion myopathy
MONDO:0014039 OMIM:615084 Orphanet:352447 mitochondrial DNA depletion syndrome 11
MONDO:0012115 OMIM:608765 - scoliosis, isolated, susceptibility to, 3
MONDO:0033549 OMIM:618977 - optic atrophy 12
MONDO:0008345 OMIM:616373 Orphanet:79126 idiopathic pulmonary fibrosis
MONDO:0014966 OMIM:617201 - periventricular nodular heterotopia 7
MONDO:0011452 OMIM:604379 Orphanet:55654 hypotrichosis 7
MONDO:0009050 OMIM:219090 Orphanet:96253 Cushing disease due to pituitary adenoma
MONDO:0014716 OMIM:616638 Orphanet:457485 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
MONDO:0032882 OMIM:618724 - Heyn-Sproul-Jackson syndrome
MONDO:0009694 OMIM:254600 Orphanet:2587 myeloperoxidase deficiency
MONDO:0030894 OMIM:619151 - AMED syndrome, digenic
MONDO:0014651 OMIM:616462 - acrofacial dysostosis Cincinnati type
MONDO:0016203 - Orphanet:209902 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
MONDO:0010046 OMIM:270750 Orphanet:101003 hereditary spastic paraplegia 23
MONDO:0008244 OMIM:172800 Orphanet:2884 piebaldism
MONDO:0013154 OMIM:613150 Orphanet:899 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
MONDO:0013904 OMIM:614830 Orphanet:899 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
MONDO:0016995 OMIM:607174 Orphanet:263662 familial multiple meningioma
MONDO:0012187 OMIM:609054 - Fanconi anemia complementation group J
MONDO:0013611 OMIM:614181 - retinitis pigmentosa 62
MONDO:0009897 OMIM:263570 Orphanet:206583 adult polyglucosan body disease
MONDO:0044647 OMIM:617114 Orphanet:496686 kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
MONDO:0018137 OMIM:606952 Orphanet:352737 temperature-sensitive oculocutaneous albinism type 1
MONDO:0009294 OMIM:232700 Orphanet:369 glycogen storage disease VI
MONDO:0014739 OMIM:616705 - autosomal recessive nonsyndromic hearing loss 97
MONDO:0011764 OMIM:607060 Orphanet:411602 autosomal dominant Parkinson disease 8
MONDO:0054838 OMIM:618052 - cardiomyopathy, familial hypertrophic 27
MONDO:0005155 OMIM:215600 - cirrhosis of liver
MONDO:0011624 OMIM:606003 Orphanet:101028 transaldolase deficiency
MONDO:0015446 - Orphanet:1456 atypical coarctation of aorta
MONDO:0014506 OMIM:616140 Orphanet:438114 hypomyelinating leukodystrophy 9
MONDO:0014713 OMIM:616631 - porokeratosis 9, multiple types
MONDO:0013845 OMIM:614669 Orphanet:137888 auriculocondylar syndrome 2
MONDO:0010886 OMIM:600430 Orphanet:1001 2q37 microdeletion syndrome
MONDO:0054698 OMIM:256040 - proteasome-associated autoinflammatory syndrome 1
MONDO:0030025 OMIM:618862 - neurodevelopmental disorder with hypotonia, microcephaly, and seizures
MONDO:0018874 OMIM:601626 Orphanet:519 acute myeloid leukemia
MONDO:0019259 - Orphanet:79254 classic phenylketonuria
MONDO:0013118 OMIM:613078 Orphanet:240760 Nijmegen breakage syndrome-like disorder
MONDO:0009809 OMIM:259600 - multicentric osteolysis, nodulosis, and arthropathy
MONDO:0014271 OMIM:615597 Orphanet:370924 STT3B-CDG
MONDO:0020678 - - sensorineural hearing loss disorder
MONDO:0012427 OMIM:610168 Orphanet:91387 Loeys-Dietz syndrome 2
MONDO:0007664 OMIM:137750 Orphanet:98977 glaucoma 1, open angle, A
MONDO:0011971 OMIM:608106 Orphanet:183666 hyper-IgM syndrome type 5
MONDO:0015461 - Orphanet:1505 short rib-polydactyly syndrome
MONDO:0014853 OMIM:616968 - autosomal dominant nonsyndromic hearing loss 70
MONDO:0013601 OMIM:614164 - gluthathione peroxidase deficiency
MONDO:0010561 OMIM:303600 Orphanet:192 Coffin-Lowry syndrome
MONDO:0018998 OMIM:615360 Orphanet:65 Leber congenital amaurosis
MONDO:0012890 OMIM:612389 Orphanet:2524 pontocerebellar hypoplasia type 2B
MONDO:0013501 OMIM:613954 Orphanet:803 frontotemporal dementia and/or amyotrophic lateral sclerosis 6
MONDO:0018821 - Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
MONDO:0014270 OMIM:615596 Orphanet:370921 STT3A-CDG
MONDO:0011405 OMIM:604173 Orphanet:221046 poikiloderma with neutropenia
MONDO:0013123 OMIM:613087 Orphanet:1478 atrial septal defect 6
MONDO:0015293 - Orphanet:137608 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
MONDO:0029137 OMIM:618140 - hearing loss, autosomal dominant 74
MONDO:0004946 - - hypoglycemia
MONDO:0009254 OMIM:230000 Orphanet:349 fucosidosis
MONDO:0007565 OMIM:132700 Orphanet:79493 familial cylindromatosis
MONDO:0010506 OMIM:300978 - intellectual disability, X-linked 61
MONDO:0005406 - - gestational diabetes
MONDO:0021427 OMIM:275355 Orphanet:502366 squamous cell carcinoma of lip
MONDO:0005835 OMIM:614385 Orphanet:144 Lynch syndrome
MONDO:0018309 OMIM:613712 Orphanet:388 Hirschsprung disease
MONDO:0011760 OMIM:607016 Orphanet:93474 Scheie syndrome
MONDO:0032828 OMIM:618598 - spastic tetraplegia and axial hypotonia, progressive
MONDO:0007103 OMIM:105400 Orphanet:803 amyotrophic lateral sclerosis type 1
MONDO:0009443 OMIM:242500 Orphanet:457 autosomal recessive congenital ichthyosis 4B
MONDO:0008265 OMIM:617004 Orphanet:2924 polycystic liver disease 1
MONDO:0013699 OMIM:614337 Orphanet:144 colorectal cancer, hereditary nonpolyposis, type 4
MONDO:0009112 OMIM:222765 Orphanet:309796 rhizomelic chondrodysplasia punctata type 2
MONDO:0008031 OMIM:158901 Orphanet:269 facioscapulohumeral muscular dystrophy 2
MONDO:0017722 OMIM:268800 Orphanet:309162 Sandhoff disease, juvenile form
MONDO:0032771 OMIM:618475 - paragangliomas 7
MONDO:0032790 OMIM:618505 - neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
MONDO:0007295 OMIM:245570 Orphanet:1945 childhood epilepsy with centrotemporal spikes
MONDO:0010122 OMIM:274150 Orphanet:93583 congenital thrombotic thrombocytopenic purpura
MONDO:0008328 OMIM:177700 - glaucoma 1, open angle, P
MONDO:0011006 OMIM:601162 Orphanet:447753 hereditary spastic paraplegia 9A
MONDO:0016244 OMIM:615008 Orphanet:2134 atypical hemolytic-uremic syndrome
MONDO:0014658 OMIM:616482 Orphanet:85165 severe achondroplasia-developmental delay-acanthosis nigricans syndrome
MONDO:0019177 OMIM:607694 Orphanet:77295 odontoleukodystrophy
MONDO:0013670 OMIM:614292 Orphanet:98619 myopia, high, with cataract and vitreoretinal degeneration
MONDO:0009664 OMIM:253250 Orphanet:2576 mulibrey nanism
MONDO:0007211 OMIM:112410 Orphanet:1276 brachydactyly-arterial hypertension syndrome
MONDO:0013291 OMIM:613507 Orphanet:263297 glycogen storage disease XV
MONDO:0014898 OMIM:617069 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
MONDO:0018698 - Orphanet:456333 hereditary neuroendocrine tumor of small intestine
MONDO:0018037 - Orphanet:331223 hyper-IgE syndrome
MONDO:0009370 OMIM:236792 Orphanet:79314 L-2-hydroxyglutaric aciduria
MONDO:0010215 OMIM:278760 Orphanet:910 xeroderma pigmentosum group F
MONDO:0012999 OMIM:612736 Orphanet:382 guanidinoacetate methyltransferase deficiency
MONDO:0008922 OMIM:615418 Orphanet:1369 Sengers syndrome
MONDO:0013002 OMIM:612775 - cone-rod dystrophy 9
MONDO:0009746 OMIM:256800 Orphanet:642 hereditary sensory and autonomic neuropathy type 4
MONDO:0008887 OMIM:211400 Orphanet:60033 bronchiectasis with or without elevated sweat chloride 1
MONDO:0008410 OMIM:181440 Orphanet:3135 Scheuermann disease
MONDO:0030046 OMIM:618890 - neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
MONDO:0011803 OMIM:607259 Orphanet:99013 hereditary spastic paraplegia 7
MONDO:0011789 OMIM:607174 Orphanet:263662 familial meningioma
MONDO:0007048 OMIM:101900 Orphanet:79151 acrokeratosis verruciformis
MONDO:0010396 OMIM:300672 Orphanet:505652 developmental and epileptic encephalopathy, 2
MONDO:0044776 OMIM:612885 - premature ovarian failure 10
MONDO:0017697 OMIM:232500 Orphanet:308655 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
MONDO:0030029 OMIM:618870 - skeletal dysplasia, mild, with joint laxity and advanced bone age
MONDO:0014527 OMIM:616200 Orphanet:435953 progeroid features-hepatocellular carcinoma predisposition syndrome
MONDO:0014866 OMIM:617017 Orphanet:443950 Charcot-Marie-Tooth disease axonal type 2T
MONDO:0009678 OMIM:253800 Orphanet:899 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
MONDO:0016393 OMIM:603457 Orphanet:2250 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
MONDO:0019456 OMIM:601626 Orphanet:86845 acute myeloid leukemia with multilineage dysplasia
MONDO:0014196 OMIM:615465 Orphanet:2117 Hartsfield-Bixler-Demyer syndrome
MONDO:0033557 OMIM:618998 - hemophagocytic lymphohistiocytosis, familial, 6
MONDO:0011429 OMIM:604302 Orphanet:92 juvenile idiopathic arthritis
MONDO:0002529 - - skin squamous cell carcinoma
MONDO:0011053 OMIM:601358 Orphanet:3051 intellectual disability-sparse hair-brachydactyly syndrome
MONDO:0014331 OMIM:615750 Orphanet:401945 Moyamoya disease with early-onset achalasia
MONDO:0011383 OMIM:603909 Orphanet:3261 autoimmune lymphoproliferative syndrome type 2A
MONDO:0013047 OMIM:612933 Orphanet:284426 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
MONDO:0016293 OMIM:616389 Orphanet:215 congenital stationary night blindness
MONDO:0013389 OMIM:613722 Orphanet:3451 developmental and epileptic encephalopathy, 12
MONDO:0019661 - Orphanet:93260 Pfeiffer syndrome type 3
MONDO:0007719 OMIM:142340 Orphanet:2140 diaphragmatic hernia, congenital 1
MONDO:0016215 OMIM:617008 Orphanet:210141 spastic quadriplegic cerebral palsy
MONDO:0010787 OMIM:530000 Orphanet:480 Kearns-Sayre syndrome
MONDO:0014194 OMIM:615453 Orphanet:1460 mitochondrial complex III deficiency nuclear type 6
MONDO:0007962 OMIM:155500 - Megalodactyly
MONDO:0033008 OMIM:617730 Orphanet:2065 Galloway-Mowat syndrome 4
MONDO:0010060 OMIM:271245 Orphanet:1186 infantile onset spinocerebellar ataxia
MONDO:0017102 OMIM:607341 Orphanet:269008 isolated focal cortical dysplasia type IIb
MONDO:0010923 OMIM:600706 Orphanet:521305 proximal myopathy with focal depletion of mitochondria
MONDO:0013058 OMIM:612951 Orphanet:85136 cystic leukoencephalopathy without megalencephaly
MONDO:0018908 OMIM:605027 Orphanet:547 non-Hodgkin lymphoma
MONDO:0009249 OMIM:229600 Orphanet:469 hereditary fructose intolerance
MONDO:0013111 OMIM:613070 Orphanet:217371 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
MONDO:0020741 OMIM:266100 Orphanet:3006 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
MONDO:0014993 OMIM:617258 - myofibrillar myopathy 8
MONDO:0017972 - Orphanet:325524 classic congenital lipoid adrenal hyperplasia due to STAR deficency
MONDO:0014195 OMIM:615458 Orphanet:369970 microcornea-myopic chorioretinal atrophy
MONDO:0033558 OMIM:618999 - autoinflammation, immune dysregulation, and eosinophilia
MONDO:0060562 OMIM:617668 - encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
MONDO:0010842 OMIM:600195 Orphanet:2451 multiple cutaneous and mucosal venous malformations
MONDO:0020164 - Orphanet:98573 epicanthal fold
MONDO:0018393 OMIM:616950 Orphanet:399805 male infertility with azoospermia or oligozoospermia due to single gene mutation
MONDO:0017398 OMIM:265050 Orphanet:293843 3MC syndrome
MONDO:0009491 OMIM:245010 Orphanet:2342 Haim-Munk syndrome
MONDO:0014764 OMIM:616756 Orphanet:464282 spastic paraplegia-severe developmental delay-epilepsy syndrome
MONDO:0014639 OMIM:616436 Orphanet:101046 familial temporal lobe epilepsy 7
MONDO:0008006 OMIM:157900 Orphanet:570 Mobius syndrome
MONDO:0032868 OMIM:618681 - lessel-kubisch syndrome
MONDO:0014526 OMIM:616199 Orphanet:456369 polyglucosan body myopathy type 2
MONDO:0012212 OMIM:609192 Orphanet:97295 Loeys-Dietz syndrome 1
MONDO:0011774 OMIM:607101 Orphanet:90636 autosomal recessive nonsyndromic hearing loss 30
MONDO:0009955 OMIM:266280 Orphanet:3021 rapadilino syndrome
MONDO:0012699 OMIM:611588 Orphanet:206554 autosomal recessive limb-girdle muscular dystrophy type 2M
MONDO:0007790 OMIM:145900 Orphanet:64748 Charcot-Marie-Tooth disease type 3
MONDO:0013753 OMIM:614436 Orphanet:99941 Charcot-Marie-Tooth disease axonal type 2P
MONDO:0020354 OMIM:120200 Orphanet:98942 coloboma of choroid and retina
MONDO:0029144 OMIM:618148 - extraoral halitosis due to methanethiol oxidase deficiency
MONDO:0015601 OMIM:301030 Orphanet:163976 X-linked intellectual disability, van Esch type
MONDO:0014761 OMIM:616744 Orphanet:476102 hereditary pediatric Beh├žet-like disease
MONDO:0016091 - Orphanet:206448 adult Krabbe disease
MONDO:0019778 OMIM:309580 Orphanet:93974 Smith-Fineman-Myers syndrome
MONDO:0020739 OMIM:143880 Orphanet:300547 hypercalcemia, infantile, 1
MONDO:0016308 - Orphanet:216978 Niemann-Pick disease type C, late infantile neurologic onset
MONDO:0011837 OMIM:607473 - vitamin K-dependent clotting factors, combined deficiency of, type 2
MONDO:0020511 OMIM:615545 Orphanet:99860 precursor B-cell acute lymphoblastic leukemia
MONDO:0030858 OMIM:619126 - immunodeficiency 75
MONDO:0011686 OMIM:606593 Orphanet:99812 DNA ligase IV deficiency
MONDO:0013060 OMIM:612953 Orphanet:199351 autosomal recessive Parkinson disease 14
MONDO:0013419 OMIM:613783 Orphanet:169147 complement component C1s deficiency
MONDO:0014798 OMIM:616849 - brachydactyly type A1D
MONDO:0009278 - - obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
MONDO:0009650 OMIM:252500 Orphanet:576 mucolipidosis type II
MONDO:0019505 OMIM:616494 Orphanet:88637 hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
MONDO:0013794 OMIM:614521 Orphanet:71493 thrombocythemia 3
MONDO:0054588 OMIM:617506 - Noonan syndrome-like disorder with loose anagen hair 2
MONDO:0009549 OMIM:248200 Orphanet:827 severe early-childhood-onset retinal dystrophy
MONDO:0009606 OMIM:250800 Orphanet:621 methemoglobinemia due to deficiency of methemoglobin reductase
MONDO:0100186 OMIM:233910 Orphanet:238583 GTP cyclohydrolase I deficiency with hyperphenylalaninemia
MONDO:0010622 OMIM:308100 Orphanet:461 recessive X-linked ichthyosis
MONDO:0018320 OMIM:616817 Orphanet:391408 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
MONDO:0007829 OMIM:147480 Orphanet:69665 cholestasis, intrahepatic, of pregnancy, 1
MONDO:0010089 OMIM:272300 Orphanet:99731 isolated sulfite oxidase deficiency
MONDO:0021020 OMIM:218800 Orphanet:79234 Crigler-Najjar syndrome type 1
MONDO:0009723 OMIM:256000 Orphanet:506 Leigh syndrome
MONDO:0015558 - Orphanet:158778 isolated bone marrow mastocytosis
MONDO:0012648 OMIM:611283 Orphanet:79159 isobutyryl-CoA dehydrogenase deficiency
MONDO:0018279 OMIM:613152 Orphanet:370980 congenital muscular dystrophy without intellectual disability
MONDO:0014603 OMIM:616357 - autosomal dominant nonsyndromic hearing loss 40
MONDO:0014504 OMIM:616138 Orphanet:2855 Perrault syndrome 5
MONDO:0004948 OMIM:612559 Orphanet:67038 B-cell chronic lymphocytic leukemia
MONDO:0032806 OMIM:618546 - trichothiodystrophy 7, nonphotosensitive
MONDO:0014353 OMIM:615816 Orphanet:443811 immunodeficiency 23
MONDO:0007574 OMIM:133190 Orphanet:1955 spinocerebellar ataxia type 34
MONDO:0006292 OMIM:156240 Orphanet:50251 malignant mesothelioma
MONDO:0010358 OMIM:300554 - hypophosphatemic rickets, X-linked recessive
MONDO:0011014 OMIM:601200 Orphanet:64742 pleuropulmonary blastoma
MONDO:0012585 OMIM:610938 - coronary heart disease, susceptibility to, 7
MONDO:0018349 - Orphanet:397941 MAN1B1-CDG
MONDO:0013842 OMIM:614662 Orphanet:168588 cortisone reductase deficiency 2
MONDO:0013660 OMIM:614262 - arthrogryposis, Perthes disease, and upward gaze palsy
MONDO:0019346 OMIM:256550 Orphanet:812 sialidosis type 1
MONDO:0014564 OMIM:616278 - congenital bile acid synthesis defect 5
MONDO:0012953 OMIM:612591 - colorectal cancer, susceptibility to, 10
MONDO:0011275 OMIM:602875 Orphanet:40 acromesomelic dysplasia 1, Maroteaux type
MONDO:0013212 OMIM:613287 Orphanet:228174 Charcot-Marie-Tooth disease axonal type 2N
MONDO:0011246 OMIM:602541 Orphanet:280671 megaconial type congenital muscular dystrophy
MONDO:0012138 OMIM:608840 Orphanet:98894 muscular dystrophy-dystroglycanopathy type B6
MONDO:0008586 OMIM:189960 Orphanet:1199 esophageal atresia/tracheoesophageal fistula
MONDO:0014088 OMIM:615224 Orphanet:164736 advanced sleep phase syndrome 2
MONDO:0012217 OMIM:609220 Orphanet:2771 Bruck syndrome 2
MONDO:0012120 OMIM:608782 Orphanet:79246 pyruvate dehydrogenase phosphatase deficiency
MONDO:0009293 OMIM:232600 Orphanet:368 glycogen storage disease V
MONDO:0013995 OMIM:614972 Orphanet:69665 cholestasis, intrahepatic, of pregnancy, 3
MONDO:0016392 OMIM:213000 Orphanet:2246 cerebellar hypoplasia-tapetoretinal degeneration syndrome
MONDO:0011217 OMIM:602398 Orphanet:35107 desmosterolosis
MONDO:0100255 OMIM:614300 Orphanet:289290 adenosine kinase deficiency
MONDO:0011631 OMIM:606069 Orphanet:139491 hemochromatosis type 4
MONDO:0014143 OMIM:615355 Orphanet:648 Noonan syndrome 8
MONDO:0015517 OMIM:616576 Orphanet:1572 common variable immunodeficiency
MONDO:0020246 - Orphanet:98668 inherited vitreoretinopathy
MONDO:0012233 OMIM:609265 Orphanet:524 Li-Fraumeni syndrome 2
MONDO:0009683 OMIM:254110 Orphanet:1878 autosomal recessive limb-girdle muscular dystrophy type 2H
MONDO:0013254 OMIM:613402 Orphanet:228418 microcephaly, seizures, and developmental delay
MONDO:0032609 OMIM:618225 - mitochondrial complex 1 deficiency, nuclear type 4
MONDO:0007496 OMIM:128235 Orphanet:71517 dystonia 12
MONDO:0010671 OMIM:309800 Orphanet:85275 microphthalmia, syndromic 1
MONDO:0013821 OMIM:614609 Orphanet:1465 intellectual disability, autosomal dominant 16
MONDO:0015278 OMIM:614320 Orphanet:1333 familial pancreatic carcinoma
MONDO:0010107 - - obsolete testicular regression syndrome
MONDO:0016601 - Orphanet:247573 adult-onset citrullinemia type I
MONDO:0044319 OMIM:617452 Orphanet:505237 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
MONDO:0019775 OMIM:309580 Orphanet:93971 Chudley-Lowry-Hoar syndrome
MONDO:0008559 OMIM:188050 - thrombophilia due to thrombin defect
MONDO:0010029 OMIM:270100 Orphanet:450 situs inversus
MONDO:0011551 OMIM:605407 Orphanet:101150 TH-deficient dopa-responsive dystonia
MONDO:0010655 OMIM:309520 Orphanet:776 X-linked intellectual disability with marfanoid habitus
MONDO:0005387 - Orphanet:619 primary ovarian failure
MONDO:0005335 OMIM:114500 - colorectal neoplasm
MONDO:0008661 OMIM:193200 Orphanet:247871 vitiligo
MONDO:0016692 - Orphanet:251615 pilomyxoid astrocytoma
MONDO:0014228 OMIM:615523 Orphanet:98974 corneal dystrophy, Fuchs endothelial, 8
MONDO:0007723 OMIM:142623 Orphanet:388 Hirschsprung disease, susceptibility to, 1
MONDO:0013900 OMIM:614820 Orphanet:2131 alternating hemiplegia of childhood 2
MONDO:0033643 OMIM:619079 - inflammatory bowel disease 30
MONDO:0015009 OMIM:617300 - lymphatic malformation 7
MONDO:0035124 - Orphanet:589608 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
MONDO:0030856 OMIM:619124 - developmental and epileptic encephalopathy 89
MONDO:0010907 OMIM:600627 Orphanet:2224 familial hypertryptophanemia
MONDO:0032600 OMIM:618205 - Snijders Blok-Campeau syndrome
MONDO:0014895 OMIM:617065 - developmental and epileptic encephalopathy, 40
MONDO:0013825 OMIM:614616 Orphanet:314373 congenital diarrhea 6
MONDO:0009064 OMIM:219750 Orphanet:411641 ocular cystinosis
MONDO:0012792 OMIM:612075 Orphanet:298 mitochondrial DNA depletion syndrome 8a
MONDO:0014334 OMIM:615758 Orphanet:280142 severe combined immunodeficiency due to LCK deficiency
MONDO:0017700 OMIM:232500 Orphanet:308698 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
MONDO:0008226 OMIM:608526 - periodontitis, aggressive 1
MONDO:0015556 - Orphanet:158772 nodular urticaria pigmentosa
MONDO:0014348 OMIM:615802 - intellectual disability, autosomal recessive 42
MONDO:0017571 OMIM:158350 Orphanet:2969 Proteus-like syndrome
MONDO:0014417 OMIM:615957 Orphanet:423296 spinocerebellar ataxia type 38
MONDO:0005029 OMIM:614521 Orphanet:71493 essential thrombocythemia
MONDO:0009439 OMIM:242100 Orphanet:79394 autosomal recessive congenital ichthyosis 2
MONDO:0044638 - Orphanet:494547 hypopharynx squamous cell carcinoma
MONDO:0044302 OMIM:617360 - congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
MONDO:0007806 OMIM:146550 Orphanet:444 hypotrichosis 4
MONDO:0015447 OMIM:607464 Orphanet:146 differentiated thyroid carcinoma
MONDO:0009958 OMIM:600964 Orphanet:773 adult Refsum disease
MONDO:0017193 - Orphanet:276630 symptomatic form of Coffin-Lowry syndrome in female carriers
MONDO:0013529 OMIM:614021 Orphanet:3286 catecholaminergic polymorphic ventricular tachycardia 3
MONDO:0029131 OMIM:618124 - peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
MONDO:0007606 OMIM:135100 Orphanet:337 fibrodysplasia ossificans progressiva
MONDO:0011962 OMIM:608089 - endometrial cancer
MONDO:0014207 OMIM:615489 - age related macular degeneration 14
MONDO:0014389 OMIM:615895 Orphanet:397937 polyglucosan body myopathy 1 with or without immunodeficiency
MONDO:0008727 OMIM:201810 Orphanet:90791 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
MONDO:0010031 OMIM:270200 Orphanet:816 Sjogren-Larsson syndrome
MONDO:0010600 OMIM:306400 Orphanet:379 granulomatous disease, chronic, X-linked
MONDO:0009387 OMIM:238600 Orphanet:309015 familial lipoprotein lipase deficiency
MONDO:0009502 OMIM:245348 Orphanet:79244 pyruvate dehydrogenase E2 deficiency
MONDO:0044640 OMIM:617017 Orphanet:495274 charcot-marie-tooth disease type 2T
MONDO:0014856 OMIM:616974 Orphanet:478042 combined oxidative phosphorylation defect type 30
MONDO:0008729 OMIM:202010 Orphanet:90795 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
MONDO:0009705 OMIM:255120 Orphanet:156 carnitine palmitoyl transferase 1A deficiency
MONDO:0014233 OMIM:615530 Orphanet:391411 early-onset Parkinson disease 20
MONDO:0018005 - Orphanet:329475 spastic paraplegia-Paget disease of bone syndrome
MONDO:0100101 OMIM:208150 Orphanet:994 fetal akinesia deformation sequence 1
MONDO:0008855 OMIM:209920 Orphanet:572 MHC class II deficiency
MONDO:0009266 OMIM:230900 Orphanet:77260 Gaucher disease type II
MONDO:0009675 OMIM:253600 Orphanet:267 autosomal recessive limb-girdle muscular dystrophy type 2A
MONDO:0100251 - Orphanet:53715 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
MONDO:0044637 - Orphanet:494526 infantile-onset generalized dyskinesia with orofacial involvement
MONDO:0018464 OMIM:300661 Orphanet:411543 severe phosphoribosylpyrophosphate synthetase superactivity
MONDO:0009593 OMIM:250220 Orphanet:93317 spondylometaphyseal dysplasia, Sedaghatian type
MONDO:0009783 OMIM:258450 Orphanet:254886 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
MONDO:0017360 OMIM:251000 Orphanet:289916 vitamin B12-unresponsive methylmalonic acidemia type mut0
MONDO:0008977 OMIM:215300 Orphanet:55880 chondrosarcoma
MONDO:0029141 OMIM:618144 - Usher syndrome, type 4
MONDO:0005090 OMIM:181500 Orphanet:3140 schizophrenia
MONDO:0009485 OMIM:244450 Orphanet:2707 oculocerebrofacial syndrome, Kaufman type
MONDO:0030077 OMIM:618845 - vertebral, cardiac, renal, and limb defects syndrome 3
MONDO:0013259 OMIM:613411 Orphanet:75382 Oguchi disease-2
MONDO:0032608 OMIM:618224 - mitochondrial complex 1 deficiency, nuclear type 3
MONDO:0018463 OMIM:300661 Orphanet:411536 mild phosphoribosylpyrophosphate synthetase superactivity
MONDO:0012520 OMIM:610549 Orphanet:2297 insulin-resistance syndrome type A
MONDO:0010465 OMIM:300867 Orphanet:2322 Kabuki syndrome 2
MONDO:0018876 - Orphanet:52416 mantle cell lymphoma
MONDO:0011214 OMIM:602347 Orphanet:79305 progressive familial intrahepatic cholestasis type 3
MONDO:0100348 OMIM:619091 - neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
MONDO:0013354 OMIM:613672 Orphanet:254343 spastic ataxia 4
MONDO:0033615 OMIM:619028 - coenzyme q10 deficiency, primary, 9
MONDO:0013162 OMIM:613158 Orphanet:206559 autosomal recessive limb-girdle muscular dystrophy type 2N
MONDO:0012393 OMIM:610015 Orphanet:71278 congenital brain dysgenesis due to glutamine synthetase deficiency
MONDO:0010159 OMIM:276300 Orphanet:252202 mismatch repair cancer syndrome 1
MONDO:0004691 - Orphanet:730 autosomal dominant polycystic kidney disease
MONDO:0014599 OMIM:616351 - intellectual disability, autosomal dominant 34
MONDO:0016505 - Orphanet:231625 aldosterone-producing adrenal cortex adenoma
MONDO:0020332 - Orphanet:98849 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
MONDO:0019623 OMIM:610618 Orphanet:91378 hereditary angioedema
MONDO:0009441 OMIM:242300 Orphanet:313 autosomal recessive congenital ichthyosis 1
MONDO:0019502 OMIM:617188 Orphanet:88616 autosomal recessive non-syndromic intellectual disability
MONDO:0009539 OMIM:247640 Orphanet:513 lymphoblastic leukemia, acute, with lymphomatous features
MONDO:0013386 OMIM:613718 Orphanet:90636 autosomal recessive nonsyndromic hearing loss 74
MONDO:0014253 OMIM:615559 Orphanet:3261 autoimmune lymphoproliferative syndrome type 3
MONDO:0012672 OMIM:611465 - cholelithiasis
MONDO:0005347 - - hypertriglyceridemia
MONDO:0018097 OMIM:617065 Orphanet:3451 West syndrome
MONDO:0018273 - Orphanet:370930 XYLT1-CDG
MONDO:0018767 OMIM:602079 Orphanet:468726 severe primary trimethylaminuria
MONDO:0060622 OMIM:617804 - neurodevelopmental disorder with severe motor impairment and absent language
MONDO:0013327 OMIM:613616 Orphanet:93600 primary hyperoxaluria type 3
MONDO:0018138 OMIM:103470 Orphanet:352740 ocular albinism with congenital sensorineural hearing loss
MONDO:0014126 OMIM:615300 Orphanet:2855 Perrault syndrome 4
MONDO:0014679 OMIM:616531 Orphanet:98889 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
MONDO:0018644 - Orphanet:447757 autosomal dominant complex spastic paraplegia type 9B
MONDO:0009504 OMIM:245400 Orphanet:17 mitochondrial DNA depletion syndrome 9
MONDO:0013692 OMIM:614327 Orphanet:289539 BAP1-related tumor predisposition syndrome
MONDO:0020526 - Orphanet:99887 acute megakaryoblastic leukemia in down syndrome
MONDO:0016485 OMIM:614504 Orphanet:231183 Usher syndrome type 3
MONDO:0014175 OMIM:615418 Orphanet:1369 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
MONDO:0015170 OMIM:616868 Orphanet:103908 congenital sodium diarrhea
MONDO:0010977 OMIM:601003 Orphanet:53347 Brody myopathy
MONDO:0011730 OMIM:606812 Orphanet:24 fumaric aciduria
MONDO:0009950 OMIM:266200 Orphanet:766 pyruvate kinase deficiency of red cells
MONDO:0020736 OMIM:191480 Orphanet:1410 uncombable hair syndrome 1
MONDO:0042490 OMIM:202700 Orphanet:486 neutropenia, severe congenital, 1, autosomal dominant
MONDO:0011537 OMIM:605309 Orphanet:210548 macrocephaly-autism syndrome
MONDO:0014946 OMIM:617159 - Sifrim-Hitz-Weiss syndrome
MONDO:0012348 OMIM:609812 Orphanet:552 maturity-onset diabetes of the young type 8
MONDO:0013456 OMIM:613839 Orphanet:319651 constitutional megaloblastic anemia with severe neurologic disease
MONDO:0014612 OMIM:616371 Orphanet:2032 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
MONDO:0012353 OMIM:609820 Orphanet:247511 erythrocytosis, familial, 3
MONDO:0018485 - Orphanet:420429 glycogen storage disease due to acid maltase deficiency, late-onset
MONDO:0013338 OMIM:613641 Orphanet:254334 Charcot-Marie-Tooth disease recessive intermediate B
MONDO:0014418 OMIM:615959 Orphanet:169186 myopathy, centronuclear, 5
MONDO:0010814 OMIM:600092 Orphanet:1422 chondrodysplasia-pseudohermaphroditism syndrome
MONDO:0018461 - Orphanet:411511 Angelman syndrome due to a point mutation
MONDO:0020358 - Orphanet:98947 coloboma of optic disc
MONDO:0014873 OMIM:617025 Orphanet:64754 nevus comedonicus syndrome
MONDO:0009021 OMIM:217980 Orphanet:3338 Toriello-Carey syndrome
MONDO:0013741 OMIM:614417 Orphanet:165805 familial temporal lobe epilepsy 5
MONDO:0012398 OMIM:610024 Orphanet:49382 retinal cone dystrophy 3A
MONDO:0012546 OMIM:610725 - nephrotic syndrome, type 3
MONDO:0012127 OMIM:608807 Orphanet:140922 autosomal recessive limb-girdle muscular dystrophy type 2J
MONDO:0012994 OMIM:612716 Orphanet:70594 dopa-responsive dystonia due to sepiapterin reductase deficiency
MONDO:0060527 OMIM:617596 - maleylacetoacetate isomerase deficiency
MONDO:0030982 OMIM:619221 - sulfide quinone oxidoreductase deficiency
MONDO:0017698 OMIM:232500 Orphanet:308670 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
MONDO:0009660 OMIM:253010 Orphanet:582 mucopolysaccharidosis type 4B
MONDO:0019637 - Orphanet:93101 renal hypoplasia
MONDO:0008765 OMIM:204100 - Leber congenital amaurosis 2
MONDO:0023644 - - lip and oral cavity carcinoma
MONDO:0017602 - Orphanet:300895 ALK-positive anaplastic large cell lymphoma
MONDO:0018832 - Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease
MONDO:0013579 OMIM:614105 Orphanet:289307 methylmalonate semialdehyde dehydrogenase deficiency
MONDO:0030105 OMIM:618881 Orphanet:570422 galactosemia 4
OMIM:181800 OMIM:181800 - SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 1
MONDO:0008280 OMIM:175200 Orphanet:2869 Peutz-Jeghers syndrome
MONDO:0007376 OMIM:121850 Orphanet:98970 fleck corneal dystrophy
MONDO:0015020 OMIM:617323 - intellectual disability, autosomal recessive 59
MONDO:0009940 OMIM:265800 Orphanet:763 pycnodysostosis
MONDO:0018663 OMIM:618019 Orphanet:448267 regressive spondylometaphyseal dysplasia
MONDO:0013539 OMIM:614037 Orphanet:79507 hypotonia-failure to thrive-microcephaly syndrome
MONDO:0030947 OMIM:619173 - neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
MONDO:0032687 OMIM:618342 - intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
MONDO:0009624 OMIM:616335 Orphanet:2518 microcephaly and chorioretinopathy 1
MONDO:0024553 OMIM:600462 Orphanet:2598 myopathy, lactic acidosis, and sideroblastic anemia 1
MONDO:0009659 OMIM:253000 Orphanet:582 mucopolysaccharidosis type 4A
MONDO:0000468 - - third-degree atrioventricular block
MONDO:0013083 OMIM:613014 - neuroblastoma, susceptibility to, 3
MONDO:0014208 OMIM:615490 Orphanet:397968 Charcot-Marie-Tooth disease type 2R
MONDO:0009797 OMIM:258900 Orphanet:30 orotic aciduria
MONDO:0009874 OMIM:262190 Orphanet:769 Rabson-Mendenhall syndrome
MONDO:0017582 - Orphanet:300385 pituitary adenocarcinoma
MONDO:0010502 OMIM:300968 - intellectual disability, X-linked 99, syndromic, female-restricted
MONDO:0010767 OMIM:415000 Orphanet:1646 spermatogenic failure, Y-linked, 2
MONDO:0013160 OMIM:613156 Orphanet:370968 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
MONDO:0032906 OMIM:618770 - spastic paraplegia 82, autosomal recessive
MONDO:0014728 OMIM:616672 Orphanet:477774 combined oxidative phosphorylation defect type 27
MONDO:0014212 OMIM:615501 Orphanet:99732 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
MONDO:0014867 OMIM:617018 Orphanet:497764 spinocerebellar ataxia 43
MONDO:0044737 - Orphanet:506353 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction
MONDO:0014141 OMIM:615351 Orphanet:370968 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
MONDO:0019569 OMIM:216400 Orphanet:90324 Cockayne syndrome type 1
MONDO:0009235 OMIM:228980 Orphanet:363989 familial benign flecked retina
MONDO:0013792 OMIM:614519 - intracerebral hemorrhage
MONDO:0008296 OMIM:176100 Orphanet:95159 familial porphyria cutanea tarda
MONDO:0005010 OMIM:614466 - coronary artery disorder
MONDO:0008340 OMIM:616219 Orphanet:91411 congenital ptosis
MONDO:0015372 OMIM:615193 Orphanet:140957 autosomal dominant macrothrombocytopenia
MONDO:0009327 OMIM:234750 - heart, malformation of
MONDO:0032648 OMIM:618273 - mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
MONDO:0014018 OMIM:615033 Orphanet:320380 hereditary spastic paraplegia 54
MONDO:0013074 OMIM:613001 Orphanet:2396 encephalocraniocutaneous lipomatosis
MONDO:0032913 OMIM:618780 - congenital heart defects, multiple types, 7
MONDO:0005336 OMIM:300695 - myopathy
MONDO:0012518 OMIM:610542 Orphanet:590 congenital myasthenic syndrome 12
MONDO:0012367 OMIM:609923 - retinitis pigmentosa 31
MONDO:0032930 OMIM:618808 - intellectual developmental disorder with poor growth and with or without seizures or ataxia
MONDO:0044330 OMIM:618011 - hyperekplexia 4
MONDO:0020121 OMIM:600416 Orphanet:98473 muscular dystrophy
MONDO:0010780 OMIM:500009 Orphanet:254864 mitochondrial myopathy with reversible cytochrome C oxidase deficiency
MONDO:0011717 OMIM:606762 Orphanet:35878 hyperinsulinism-hyperammonemia syndrome
MONDO:0043364 OMIM:261500 - eosinophil peroxidase deficiency
MONDO:0014008 OMIM:615011 - phosphohydroxylysinuria
MONDO:0012450 OMIM:610246 Orphanet:101109 spinocerebellar ataxia type 28
MONDO:0024535 OMIM:182250 Orphanet:85191 Singleton-Merten syndrome 1
MONDO:0008759 OMIM:203740 Orphanet:31 oxoglutaricaciduria
MONDO:0020378 OMIM:613763 Orphanet:98993 early-onset posterior polar cataract
MONDO:0010389 OMIM:300645 Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
MONDO:0032642 OMIM:618265 Orphanet:565858 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
MONDO:0008910 OMIM:212070 - carboxypeptidase N deficiency
MONDO:0024573 - Orphanet:155 familial hypertrophic cardiomyopathy
MONDO:0013485 OMIM:613908 Orphanet:276193 spinocerebellar ataxia type 35
MONDO:0060624 OMIM:617807 - neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
MONDO:0011749 OMIM:606952 Orphanet:79434 oculocutaneous albinism type 1B
MONDO:0019636 - Orphanet:93100 renal agenesis, unilateral
MONDO:0014762 OMIM:616749 - heterotaxy, visceral, 7, autosomal
MONDO:0007817 OMIM:147050 - IgE responsiveness, atopic
MONDO:0017354 - Orphanet:289860 infantile glycine encephalopathy
MONDO:0012421 OMIM:610154 - autosomal recessive nonsyndromic hearing loss 44
MONDO:0030899 OMIM:619165 Orphanet:597733 oculocutaneous albinism type 8
MONDO:0009215 OMIM:227650 Orphanet:84 Fanconi anemia complementation group A
MONDO:0012221 OMIM:609241 Orphanet:79281 alpha-N-acetylgalactosaminidase deficiency type 1
MONDO:0010870 OMIM:600334 Orphanet:609 tibial muscular dystrophy
MONDO:0014861 OMIM:617006 - autoimmune disease, multisystem, infantile-onset, 2
MONDO:0011397 OMIM:604121 Orphanet:314404 autosomal dominant cerebellar ataxia, deafness and narcolepsy
MONDO:0013473 OMIM:613870 - Hirschsprung disease, cardiac defects, and autonomic dysfunction
MONDO:0014869 OMIM:617021 Orphanet:528091 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
MONDO:0004675 - - mitochondrial encephalomyopathy
MONDO:0019742 - Orphanet:93589 late-onset nephronophthisis
MONDO:0012969 OMIM:612633 - microvascular complications of diabetes, susceptibility to, 5
MONDO:0011787 OMIM:607155 Orphanet:34515 autosomal recessive limb-girdle muscular dystrophy type 2I
MONDO:0011969 OMIM:608104 Orphanet:79325 ALG8-CDG
MONDO:0054742 OMIM:617873 - combined oxidative phosphorylation deficiency 35
MONDO:0013802 OMIM:614559 Orphanet:313850 infantile cerebellar-retinal degeneration
MONDO:0054785 OMIM:617954 - multiple mitochondrial dysfunctions syndrome 6
MONDO:0008751 OMIM:203400 Orphanet:99763 corticosterone methyloxidase type 1 deficiency
MONDO:0015626 - Orphanet:166 Charcot-Marie-Tooth disease
MONDO:0014632 OMIM:616420 - hypomyelinating leukodystrophy 10
MONDO:0010363 OMIM:300577 - intellectual disability, X-linked 91
MONDO:0020850 OMIM:618109 - intellectual disability, autosomal recessive 65
MONDO:0044329 OMIM:617952 - osteogenesis imperfecta, type 18
MONDO:0013536 OMIM:614034 Orphanet:562509 heme oxygenase 1 deficiency
MONDO:0026724 OMIM:301025 - Paganini-Miozzo syndrome
MONDO:0010318 OMIM:300422 Orphanet:323 FG syndrome 4
MONDO:0014130 OMIM:615327 Orphanet:79145 Dowling-Degos disease 2
MONDO:0005575 OMIM:615083 Orphanet:466667 colorectal cancer
MONDO:0014139 OMIM:615349 Orphanet:75496 Ehlers-Danlos syndrome, spondylodysplastic type, 2
MONDO:0010184 OMIM:277400 Orphanet:79282 methylmalonic aciduria and homocystinuria type cblC
MONDO:0011137 OMIM:601718 Orphanet:791 retinitis pigmentosa 19
MONDO:0009756 OMIM:257200 Orphanet:77292 Niemann-Pick disease type A
MONDO:0032890 OMIM:618733 - neuromuscular disease and ocular or auditory anomalies with or without seizures
MONDO:0044331 - Orphanet:226316 genetic transient congenital hypothyroidism
MONDO:0012074 OMIM:608612 Orphanet:90154 mandibuloacral dysplasia with type B lipodystrophy
MONDO:0014759 OMIM:616739 - intellectual disability, autosomal recessive 51
MONDO:0014684 OMIM:616539 Orphanet:477684 combined oxidative phosphorylation defect type 26
MONDO:0009353 OMIM:236250 Orphanet:395 homocystinuria due to methylene tetrahydrofolate reductase deficiency
MONDO:0033046 OMIM:617564 - Meier-Gorlin syndrome 8
MONDO:0011218 OMIM:602400 Orphanet:91132 autosomal recessive congenital ichthyosis 11
MONDO:0010961 OMIM:600955 Orphanet:71528 obesity due to prohormone convertase I deficiency
MONDO:0010258 OMIM:300987 Orphanet:85282 MEHMO syndrome
MONDO:0013391 OMIM:613724 Orphanet:163684 sterol carrier protein 2 deficiency
MONDO:0013817 OMIM:614595 Orphanet:275555 preeclampsia/eclampsia 5
MONDO:0017175 - Orphanet:276241 Machado-Joseph disease type 2
MONDO:0007681 OMIM:138800 Orphanet:276399 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
MONDO:0009054 OMIM:617403 Orphanet:357074 autosomal recessive cutis laxa type 2, classic type
MONDO:0014190 OMIM:615440 Orphanet:369913 combined oxidative phosphorylation defect type 17
MONDO:0012885 OMIM:612379 Orphanet:324737 SRD5A3-CDG
MONDO:0014005 OMIM:615008 Orphanet:54370 immunoglobulin-mediated membranoproliferative glomerulonephritis
MONDO:0010938 OMIM:600802 Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency
MONDO:0013495 OMIM:613943 Orphanet:313 autosomal recessive congenital ichthyosis 8
MONDO:0017725 - Orphanet:309185 Tay-Sachs disease, b variant, juvenile form
MONDO:0011283 OMIM:603041 Orphanet:298 mitochondrial DNA depletion syndrome 1
MONDO:0009923 OMIM:264600 Orphanet:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
MONDO:0009992 OMIM:268200 Orphanet:99845 myoglobinuria, acute recurrent, autosomal recessive
MONDO:0030005 OMIM:618832 - epilepsy, early-onset, with or without developmental delay
MONDO:0020376 OMIM:611391 Orphanet:98991 early-onset nuclear cataract
MONDO:0032897 OMIM:618748 - intellectual developmental disorder with hypotonia and behavioral abnormalities
MONDO:0023692 OMIM:248600 - maple syrup urine disease type 1B
MONDO:0054695 OMIM:617760 - myopathy, centronuclear, 6, with fiber-type disproportion
MONDO:0010619 OMIM:307800 Orphanet:89936 X-linked dominant hypophosphatemic rickets
MONDO:0032838 OMIM:618622 - neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
MONDO:0009414 OMIM:240600 Orphanet:2089 glycogen storage disorder due to hepatic glycogen synthase deficiency
MONDO:0019068 - Orphanet:69063 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization
MONDO:0009490 OMIM:245000 Orphanet:678 Papillon-Lefevre disease
MONDO:0007289 OMIM:116700 Orphanet:91492 cataract 13 with adult I phenotype
MONDO:0008772 OMIM:204700 Orphanet:100033 amelogenesis imperfecta type 2A1
MONDO:0010602 OMIM:306700 Orphanet:98878 hemophilia A
MONDO:0014969 OMIM:617213 Orphanet:440713 isolated sedoheptulokinase deficiency
MONDO:0013350 OMIM:613662 Orphanet:298 mitochondrial DNA depletion syndrome 4b
MONDO:0007847 OMIM:148100 - keloid formation
MONDO:0012213 OMIM:609195 Orphanet:101006 hereditary spastic paraplegia 26
MONDO:0005012 OMIM:615848 - cutaneous melanoma
MONDO:0008185 OMIM:167800 Orphanet:676 hereditary chronic pancreatitis
MONDO:0011136 OMIM:601709 Orphanet:220436 Quebec platelet disorder
MONDO:0013726 OMIM:614388 Orphanet:330050 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
MONDO:0009285 OMIM:231950 Orphanet:33573 gamma-glutamyl transpeptidase deficiency
MONDO:0030876 OMIM:619142 - cardioacrofacial dysplasia 1
MONDO:0005292 OMIM:191390 - colitis
MONDO:0010857 OMIM:600274 Orphanet:282 semantic dementia
MONDO:0011528 OMIM:605258 Orphanet:183666 hyper-IgM syndrome type 2
MONDO:0009629 OMIM:251450 Orphanet:1425 Desbuquois dysplasia 1
MONDO:0009277 OMIM:231300 Orphanet:98977 glaucoma 3A
MONDO:0030914 OMIM:617752 - Clark-Baraitser syndrome
MONDO:0017190 - Orphanet:276621 sporadic pheochromocytoma/secreting paraganglioma
MONDO:0011215 OMIM:602361 Orphanet:2763 osteocraniostenosis
MONDO:0013521 OMIM:613989 Orphanet:3322 dyskeratosis congenita, autosomal dominant 2
MONDO:0010879 OMIM:600373 Orphanet:1458 CODAS syndrome
MONDO:0008996 OMIM:216360 Orphanet:1454 COACH syndrome 1
MONDO:0010819 OMIM:600110 Orphanet:827 Stargardt disease 3
MONDO:0008721 OMIM:201450 Orphanet:42 medium chain acyl-CoA dehydrogenase deficiency
MONDO:0009559 OMIM:248400 - mandibulofacial dysostosis with mental deficiency
MONDO:0012052 OMIM:608540 Orphanet:79327 ALG1-CDG
MONDO:0011669 OMIM:606407 Orphanet:238523 hypotonia-cystinuria syndrome
MONDO:0013337 OMIM:613640 Orphanet:36386 neuropathy, hereditary sensory and autonomic, type 1C
MONDO:0060554 OMIM:617660 - vertebral, cardiac, renal, and limb defects syndrome 1
MONDO:0012143 OMIM:608885 Orphanet:168577 hereditary cryohydrocytosis with reduced stomatin
MONDO:0010500 OMIM:300966 - intellectual disability, X-linked, syndromic 33
MONDO:0011476 OMIM:604571 Orphanet:34592 MHC class I deficiency
MONDO:0019536 OMIM:235400 Orphanet:90038 typical hemolytic-uremic syndrome
MONDO:0010717 OMIM:312170 Orphanet:79243 pyruvate dehydrogenase E1-alpha deficiency
MONDO:0015362 - Orphanet:140465 autosomal dominant distal hereditary motor neuropathy
MONDO:0012963 OMIM:612624 - microvascular complications of diabetes, susceptibility to, 3
MONDO:0014615 OMIM:616390 - trichothiodystrophy 2, photosensitive
MONDO:0014908 OMIM:617090 - microcephaly 17, primary, autosomal recessive
MONDO:0009292 OMIM:263570 Orphanet:367 glycogen storage disease due to glycogen branching enzyme deficiency
MONDO:0013245 OMIM:613385 Orphanet:228426 syndromic multisystem autoimmune disease due to ITCH deficiency
MONDO:0018834 - Orphanet:482601 adenylosuccinate synthetase-like 1-related distal myopathy
MONDO:0009427 OMIM:241500 Orphanet:436 obsolete infantile hypophosphatasia
MONDO:0060611 OMIM:617780 - combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
MONDO:0009072 OMIM:220200 Orphanet:217 Dandy-Walker syndrome
MONDO:0012524 OMIM:610600 Orphanet:99763 corticosterone methyloxidase type 2 deficiency
MONDO:0054861 OMIM:618095 - intellectual disability, autosomal recessive 63
MONDO:0007405 OMIM:123500 Orphanet:207 Crouzon syndrome
MONDO:0007932 OMIM:153800 - age related macular degeneration 2
MONDO:0014558 OMIM:616268 Orphanet:457193 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
MONDO:0019791 - Orphanet:94125 recessive mitochondrial ataxia syndrome
MONDO:0008199 OMIM:616361 Orphanet:411602 late-onset Parkinson disease
MONDO:0013041 OMIM:612923 Orphanet:93580 atypical hemolytic-uremic syndrome with I factor anomaly
MONDO:0017791 - Orphanet:314029 high bone mass osteogenesis imperfecta
MONDO:0011738 OMIM:606854 Orphanet:268940 bilateral frontoparietal polymicrogyria
MONDO:0014481 OMIM:616069 Orphanet:294023 inflammatory skin and bowel disease, neonatal, 2
MONDO:0014157 OMIM:615381 Orphanet:363649 mandibular hypoplasia-deafness-progeroid syndrome
MONDO:0013303 OMIM:613551 - autoimmune disease, susceptibility to, 6
MONDO:0013543 OMIM:614044 - trypsinogen deficiency
MONDO:0009857 OMIM:261550 Orphanet:2856 persistent Mullerian duct syndrome
MONDO:0008147 OMIM:610915 Orphanet:216804 osteogenesis imperfecta type 2
MONDO:0000170 OMIM:616428 Orphanet:98938 microphthalmia, isolated, with coloboma
MONDO:0013624 OMIM:614202 - Rafiq syndrome
MONDO:0014397 OMIM:615917 Orphanet:420728 combined oxidative phosphorylation defect type 20
MONDO:0013528 OMIM:614020 - intellectual disability, autosomal recessive 14
MONDO:0009416 OMIM:240900 Orphanet:293964 hypoinsulinemic hypoglycemia and body hemihypertrophy
MONDO:0032665 OMIM:618302 - intellectual developmental disorder, autosomal recessive 68
MONDO:0030872 OMIM:619132 - frontotemporal dementia and/or amyotrophic lateral sclerosis 8
MONDO:0011232 OMIM:602481 Orphanet:569 migraine, familial hemiplegic, 2
MONDO:0011698 OMIM:606664 Orphanet:289891 glycine N-methyltransferase deficiency
MONDO:0009100 OMIM:222100 - IDDM 1
MONDO:0014004 OMIM:615007 Orphanet:1980 basal ganglia calcification, idiopathic, 4
MONDO:0013276 OMIM:613471 Orphanet:779 Reynolds syndrome
MONDO:0009591 OMIM:250100 Orphanet:512 metachromatic leukodystrophy, juvenile form
MONDO:0010949 OMIM:600882 Orphanet:99936 Charcot-Marie-Tooth disease type 2B
MONDO:0002032 - - colon carcinoma
MONDO:0010247 OMIM:300100 Orphanet:43 X-linked cerebral adrenoleukodystrophy
MONDO:0009615 OMIM:251120 Orphanet:308425 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
MONDO:0032749 OMIM:618434 - hearing loss, autosomal recessive 94
MONDO:0013334 OMIM:613630 Orphanet:465824 cocoon syndrome
MONDO:0019776 OMIM:309580 Orphanet:93972 Juberg-Marsidi syndrome
MONDO:0014757 OMIM:616737 Orphanet:487796 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
MONDO:0014351 OMIM:615809 Orphanet:369920 pontocerebellar hypoplasia type 9
MONDO:0013924 OMIM:614856 Orphanet:216812 osteogenesis imperfecta type 13
MONDO:0013737 OMIM:614409 Orphanet:320391 hereditary spastic paraplegia 46
MONDO:0010495 OMIM:300953 - trichothiodystrophy 5, nonphotosensitive
MONDO:0013252 OMIM:613398 Orphanet:280558 Warsaw breakage syndrome
MONDO:0014600 OMIM:616353 Orphanet:3322 dyskeratosis congenita, autosomal recessive 6
MONDO:0013046 OMIM:612932 Orphanet:99849 glycogen storage disease due to muscle beta-enolase deficiency
MONDO:0030991 OMIM:619232 - bile acid conjugation defect 1
MONDO:0014484 OMIM:616080 - microcephaly 12, primary, autosomal recessive
MONDO:0010328 OMIM:300448 Orphanet:231401 alpha-thalassemia-myelodysplastic syndrome
MONDO:0019777 OMIM:309580 Orphanet:93973 Carpenter-Waziri syndrome
MONDO:0014382 OMIM:615879 Orphanet:404443 tall stature-intellectual disability-facial dysmorphism syndrome
MONDO:0018877 OMIM:136880 Orphanet:52427 retinitis punctata albescens
MONDO:0030974 OMIM:619224 - mitochondrial complex 2 deficiency, nuclear type 4
MONDO:0011141 OMIM:601775 - megaloblastic anemia, folate-responsive
MONDO:0011719 OMIM:606764 Orphanet:44890 gastrointestinal stromal tumor
MONDO:0011610 OMIM:605850 Orphanet:243343 dimethylglycine dehydrogenase deficiency
MONDO:0010772 OMIM:500001 Orphanet:99718 Leber optic atrophy and dystonia
MONDO:0009096 OMIM:221820 Orphanet:313808 hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
MONDO:0021067 - - mediastinal germ cell tumor
MONDO:0011527 OMIM:605253 Orphanet:99951 Charcot-Marie-Tooth disease type 4E
MONDO:0011613 OMIM:605909 Orphanet:2828 autosomal recessive early-onset Parkinson disease 6
MONDO:0014339 OMIM:615768 Orphanet:412057 autosomal recessive spinocerebellar ataxia 16
MONDO:0010217 OMIM:278800 Orphanet:1569 de Sanctis-Cacchione syndrome
MONDO:0019588 OMIM:616958 Orphanet:90636 hearing loss, autosomal recessive
MONDO:0011178 OMIM:602066 Orphanet:31709 infantile convulsions and choreoathetosis
MONDO:0013663 OMIM:614278 - platelet-activating factor acetylhydrolase deficiency
MONDO:0012624 OMIM:611126 Orphanet:99901 acyl-CoA dehydrogenase 9 deficiency
MONDO:0011866 OMIM:607596 Orphanet:2254 pontocerebellar hypoplasia type 1A
MONDO:0007540 OMIM:131100 Orphanet:652 multiple endocrine neoplasia type 1
MONDO:0032611 OMIM:618228 - mitochondrial complex 1 deficiency, nuclear type 6
MONDO:0016419 OMIM:613399 Orphanet:227535 hereditary breast carcinoma
MONDO:0009227 OMIM:228550 Orphanet:2591 myofibromatosis, infantile, 1
MONDO:0013977 OMIM:614932 Orphanet:319514 combined oxidative phosphorylation defect type 13
MONDO:0008233 OMIM:171300 Orphanet:29072 pheochromocytoma
MONDO:0020091 - Orphanet:98343 obsolete male infertility due to obstructive azoospermia
MONDO:0009173 OMIM:226200 Orphanet:168601 congenital enteropathy due to enteropeptidase deficiency
MONDO:0100294 OMIM:252011 Orphanet:3208 mitochondrial complex II deficiency, nuclear type 1
MONDO:0100105 OMIM:618360 - brain small vessel disease 3
MONDO:0019434 OMIM:604302 Orphanet:85414 systemic-onset juvenile idiopathic arthritis
MONDO:0009776 OMIM:258150 - spermatogenic failure 1
MONDO:0020723 OMIM:264700 Orphanet:289157 vitamin D-dependent rickets, type 1A
MONDO:0011518 OMIM:605130 Orphanet:319182 Wiedemann-Steiner syndrome
MONDO:0005061 OMIM:211980 Orphanet:415268 lung adenocarcinoma
MONDO:0020333 - Orphanet:98850 aggressive systemic mastocytosis
MONDO:0010645 OMIM:309000 Orphanet:534 oculocerebrorenal syndrome
MONDO:0013662 OMIM:614266 Orphanet:99976 Barrett esophagus
MONDO:0010421 OMIM:300755 Orphanet:47 Bruton-type agammaglobulinemia
MONDO:0007619 OMIM:136000 Orphanet:289465 isolated congenital adermatoglyphia
MONDO:0007763 OMIM:144700 Orphanet:422526 nonpapillary renal cell carcinoma
MONDO:0009728 OMIM:615382 Orphanet:93592 nephronophthisis 1
MONDO:0014076 OMIM:615190 Orphanet:3322 dyskeratosis congenita, autosomal recessive 5
MONDO:0011680 OMIM:606545 Orphanet:79394 autosomal recessive congenital ichthyosis 3
MONDO:0013872 OMIM:614731 - prostate cancer, hereditary, 2
MONDO:0014150 OMIM:615369 Orphanet:2382 developmental and epileptic encephalopathy 94
MONDO:0013762 OMIM:614462 Orphanet:401859 lipoic acid synthetase deficiency
MONDO:0008437 OMIM:182600 Orphanet:100984 hereditary spastic paraplegia 3A
MONDO:0024554 OMIM:600721 Orphanet:79315 D-2-hydroxyglutaric aciduria 1
MONDO:0005097 - - squamous cell lung carcinoma
MONDO:0033559 OMIM:619000 - intellectual developmental disorder with seizures and language delay
MONDO:0014587 OMIM:616325 Orphanet:590 congenital myasthenic syndrome 9
MONDO:0012545 OMIM:610717 Orphanet:98908 neutral lipid storage myopathy
MONDO:0013438 OMIM:613811 Orphanet:2524 pontocerebellar hypoplasia type 2D
MONDO:0008847 OMIM:209500 Orphanet:86819 atrichia with papular lesions
MONDO:0014630 OMIM:616415 Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis
MONDO:0016396 OMIM:616081 Orphanet:2254 pontocerebellar hypoplasia type 1
MONDO:0009047 OMIM:219050 - cryptorchidism
MONDO:0011086 OMIM:601457 Orphanet:331206 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
MONDO:0009259 OMIM:230450 Orphanet:33574 gamma-glutamylcysteine synthetase deficiency
MONDO:0014267 OMIM:615592 Orphanet:397787 severe combined immunodeficiency due to IKK2 deficiency
MONDO:0008319 OMIM:177000 Orphanet:79278 protoporphyria, erythropoietic, 1
MONDO:0013418 OMIM:613780 Orphanet:91387 aortic aneurysm, familial thoracic 7
MONDO:0020845 OMIM:618098 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
MONDO:0001149 OMIM:612703 - microcephaly
MONDO:0033092 OMIM:617574 - ichthyosis, congenital, autosomal recessive 13
MONDO:0012561 OMIM:610805 - congenital anomalies of kidney and urinary tract 1
MONDO:0018825 - Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy
MONDO:0017148 - Orphanet:275777 heritable pulmonary arterial hypertension
MONDO:0020849 OMIM:618108 - immunodeficiency 57
MONDO:0011236 OMIM:602485 Orphanet:79299 hyperinsulinism due to glucokinase deficiency
MONDO:0010404 OMIM:300703 Orphanet:314978 X-linked non progressive cerebellar ataxia
MONDO:0012594 OMIM:610984 Orphanet:200418 complement factor I deficiency
MONDO:0010196 OMIM:277700 Orphanet:902 Werner syndrome
MONDO:0010005 OMIM:268700 Orphanet:3124 saccharopinuria
MONDO:0011533 OMIM:605282 Orphanet:363417 temtamy preaxial brachydactyly syndrome
MONDO:0018314 - Orphanet:391316 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
MONDO:0013777 OMIM:614491 Orphanet:88939 pseudohypoaldosteronism type 2B
MONDO:0033621 OMIM:619042 - spinal muscular atrophy, infantile, James type
MONDO:0009271 OMIM:231070 Orphanet:2078 geroderma osteodysplastica
MONDO:0014876 OMIM:617028 - intellectual disability, autosomal recessive 54
MONDO:0013059 OMIM:612952 Orphanet:51 Aicardi-Goutieres syndrome 5
MONDO:0030018 OMIM:618852 - autoinflammation with episodic fever and lymphadenopathy
MONDO:0012472 OMIM:610333 Orphanet:51 Aicardi-Goutieres syndrome 4
MONDO:0011035 OMIM:601321 Orphanet:638 neurofibromatosis-Noonan syndrome
MONDO:0008316 OMIM:176860 Orphanet:745 thrombophilia due to protein C deficiency, autosomal dominant
MONDO:0008879 OMIM:211180 Orphanet:1270 Bowen-Conradi syndrome
MONDO:0014906 OMIM:617087 - Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
MONDO:0016660 OMIM:617090 Orphanet:2512 autosomal recessive primary microcephaly
MONDO:0014520 OMIM:616185 Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome
MONDO:0030843 OMIM:619101 - mismatch repair cancer syndrome 4
MONDO:0013740 OMIM:614416 Orphanet:293925 lethal occipital encephalocele-skeletal dysplasia syndrome
MONDO:0014698 OMIM:616577 Orphanet:457351 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
MONDO:0019149 OMIM:278000 Orphanet:75234 cholesteryl ester storage disease
MONDO:0012099 OMIM:608688 Orphanet:250977 AICA-ribosiduria
MONDO:0014223 OMIM:615515 Orphanet:803 amyotrophic lateral sclerosis type 19
MONDO:0019681 - Orphanet:93399 juvenile sialidosis type 2
MONDO:0008861 OMIM:210200 Orphanet:6 3-methylcrotonyl-CoA carboxylase 1 deficiency
MONDO:0016996 - Orphanet:263665 NK-cell enteropathy
MONDO:0014401 OMIM:615923 Orphanet:329191 tall stature-scoliosis-macrodactyly of the great toes syndrome
MONDO:0014013 OMIM:615026 Orphanet:411712 maternal riboflavin deficiency
MONDO:0014042 OMIM:615092 Orphanet:54260 left ventricular noncompaction 7
MONDO:0060582 OMIM:617717 Orphanet:542585 auditory neuropathy-optic atrophy syndrome
MONDO:0033481 OMIM:617770 Orphanet:589522 spinocerebellar ataxia 46
MONDO:0017177 - Orphanet:276280 hemihyperplasia-multiple lipomatosis syndrome
MONDO:0007934 OMIM:153870 Orphanet:251287 benign concentric annular macular dystrophy
MONDO:0009216 OMIM:227810 Orphanet:2088 glycogen storage disease due to GLUT2 deficiency
MONDO:0032606 OMIM:618222 - mitochondrial complex 1 deficiency, nuclear type 2
MONDO:0013176 OMIM:613195 Orphanet:363992 Weill-Marchesani 4 syndrome, recessive
MONDO:0008903 OMIM:614210 - lung cancer
MONDO:0009804 OMIM:616229 Orphanet:216812 osteogenesis imperfecta type 3
MONDO:0005212 OMIM:268220 Orphanet:780 rhabdomyosarcoma
MONDO:0014350 OMIM:615807 Orphanet:808 Seckel syndrome 8
MONDO:0013081 OMIM:613011 Orphanet:538963 lymphoproliferative syndrome 1
MONDO:0013340 OMIM:613643 Orphanet:2828 Parkinson disease 5, autosomal dominant, susceptibility to
MONDO:0010572 OMIM:304150 Orphanet:198 occipital horn syndrome
MONDO:0019391 OMIM:616435 Orphanet:84 Fanconi anemia
MONDO:0018828 OMIM:617397 Orphanet:481665 pseudo-TORCH syndrome 2
MONDO:0013616 OMIM:614190 Orphanet:189439 pigmented nodular adrenocortical disease, primary, 3
MONDO:0008876 OMIM:210900 Orphanet:125 Bloom syndrome
MONDO:0015705 OMIM:615959 Orphanet:169186 autosomal recessive centronuclear myopathy
MONDO:0013373 OMIM:613697 - dilated cardiomyopathy 1V
MONDO:0015802 - Orphanet:178469 autosomal dominant non-syndromic intellectual disability
MONDO:0010015 OMIM:269400 Orphanet:289499 anterior segment dysgenesis 7
MONDO:0013403 OMIM:613751 Orphanet:450 heterotaxy, visceral, 4, autosomal
MONDO:0012392 OMIM:610006 Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency
MONDO:0011873 OMIM:607625 Orphanet:646 Niemann-Pick disease, type C2
MONDO:0012596 OMIM:610992 Orphanet:284417 PSAT deficiency
MONDO:0011225 OMIM:603554 Orphanet:275 severe combined immunodeficiency due to DCLRE1C deficiency
MONDO:0018274 OMIM:609056 Orphanet:370938 GM3 synthase deficiency
MONDO:0100245 - Orphanet:447 acquired paroxysmal nocturnal hemoglobinuria
MONDO:0018823 - Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
MONDO:0013566 OMIM:614083 - Fanconi anemia complementation group L
MONDO:0014089 OMIM:616964 Orphanet:352662 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
MONDO:0008908 OMIM:212066 Orphanet:79329 MGAT2-CDG
MONDO:0010469 OMIM:300872 - epsilon-trimethyllysine hydroxylase deficiency
MONDO:0008393 OMIM:180849 Orphanet:783 Rubinstein-Taybi syndrome due to CREBBP mutations
MONDO:0008758 OMIM:203700 Orphanet:726 mitochondrial DNA depletion syndrome 4a
MONDO:0014474 OMIM:616052 Orphanet:352479 autosomal recessive limb-girdle muscular dystrophy type 2U
MONDO:0011939 OMIM:607944 Orphanet:50816 Spondyloenchondrodysplasia with immune dysregulation
MONDO:0010823 OMIM:600121 Orphanet:309803 rhizomelic chondrodysplasia punctata type 3
MONDO:0010385 OMIM:300635 Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency
MONDO:0014793 OMIM:616834 Orphanet:488168 microcephaly-congenital cataract-psoriasiform dermatitis syndrome
MONDO:0009760 OMIM:257320 Orphanet:89844 Norman-Roberts syndrome
MONDO:0009825 OMIM:260005 Orphanet:33572 5-oxoprolinase deficiency
MONDO:0014094 OMIM:615234 Orphanet:300298 severe congenital hypochromic anemia with ringed sideroblasts
MONDO:0007661 OMIM:137580 Orphanet:856 Tourette syndrome
MONDO:0017053 OMIM:248600 Orphanet:268173 intermittent maple syrup urine disease
MONDO:0014974 OMIM:617223 - sudden cardiac failure, alcohol-induced
MONDO:0008779 - - arthrogryposis
MONDO:0007970 OMIM:155950 Orphanet:2485 melorheostosis
MONDO:0008783 OMIM:205400 Orphanet:31150 Tangier disease
MONDO:0020747 OMIM:210250 - sitosterolemia 1
MONDO:0008907 OMIM:212065 Orphanet:79318 PMM2-CDG
MONDO:0014230 OMIM:615527 - candidiasis, familial, 8
MONDO:0009505 OMIM:245450 - lactic aciduria due to D-lactic acid
MONDO:0013700 OMIM:614338 Orphanet:309111 pancreatic triacylglycerol lipase deficiency
MONDO:0012064 OMIM:616462 Orphanet:1200 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
MONDO:0009461 OMIM:243060 Orphanet:399808 male infertility due to large-headed multiflagellar polyploid spermatozoa
MONDO:0044705 - Orphanet:500464 paranasal sinus squamous cell carcinoma
MONDO:0014533 OMIM:616211 - developmental and epileptic encephalopathy, 28
MONDO:0010939 OMIM:600803 Orphanet:69663 low phospholipid associated cholelithiasis
MONDO:0008218 OMIM:169600 Orphanet:2841 Hailey-Hailey disease
MONDO:0012056 OMIM:608553 Orphanet:65 Leber congenital amaurosis 9
MONDO:0009218 OMIM:228000 Orphanet:333 Farber lipogranulomatosis
MONDO:0013324 OMIM:613611 Orphanet:99141 lymphedema-posterior choanal atresia syndrome
MONDO:0007351 OMIM:120300 Orphanet:98945 coloboma of macula
MONDO:0009284 OMIM:231900 Orphanet:32 glutathione synthetase deficiency without 5-oxoprolinuria
MONDO:0044326 OMIM:617836 - developmental delay and seizures with or without movement abnormalities
MONDO:0005298 OMIM:166710 - osteoporosis
MONDO:0014332 OMIM:615751 Orphanet:401948 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
MONDO:0009517 OMIM:246200 Orphanet:508 Donohue syndrome
MONDO:0012153 OMIM:608907 Orphanet:1020 Alzheimer disease 9
MONDO:0005712 OMIM:614826 Orphanet:651 congenital nystagmus
MONDO:0019732 - Orphanet:93561 ALys amyloidosis
MONDO:0010547 OMIM:302500 Orphanet:1175 X-linked progressive cerebellar ataxia
MONDO:0013364 OMIM:613684 Orphanet:783 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
MONDO:0014149 OMIM:615368 Orphanet:363409 fetal akinesia-cerebral and retinal hemorrhage syndrome
MONDO:0013693 OMIM:614328 Orphanet:294023 inflammatory skin and bowel disease, neonatal, 1
MONDO:0009734 OMIM:256450 Orphanet:79643 hyperinsulinemic hypoglycemia, familial, 1
MONDO:0007478 OMIM:127000 Orphanet:93325 autosomal dominant Kenny-Caffey syndrome
MONDO:0011628 OMIM:606054 Orphanet:35 propionic acidemia
MONDO:0010726 OMIM:613454 Orphanet:778 Rett syndrome
MONDO:0013815 OMIM:614592 Orphanet:313855 FGFR2-related bent bone dysplasia
MONDO:0013778 OMIM:614492 Orphanet:88940 pseudohypoaldosteronism type 2C
MONDO:0014464 OMIM:616034 Orphanet:431361 progressive encephalopathy with leukodystrophy due to DECR deficiency
MONDO:0032526 OMIM:618093 - spinocerebellar ataxia 48
MONDO:0009165 OMIM:225750 Orphanet:51 Aicardi-Goutieres syndrome 1
MONDO:0011223 OMIM:602433 Orphanet:357043 amyotrophic lateral sclerosis type 4
MONDO:0016307 - Orphanet:216975 Niemann-Pick disease type C, severe early infantile neurologic onset
MONDO:0011614 OMIM:605911 Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
MONDO:0014820 OMIM:616896 - mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
MONDO:0010080 OMIM:500003 Orphanet:225154 familial infantile bilateral striatal necrosis
MONDO:0013920 OMIM:614849 Orphanet:1930 herpes simplex encephalitis, susceptibility to, 3
MONDO:0010983 OMIM:601042 Orphanet:53583 dystonia 9
MONDO:0009364 OMIM:236670 Orphanet:899 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
MONDO:0007485 OMIM:127550 Orphanet:1775 dyskeratosis congenita, autosomal dominant 1
MONDO:0015177 OMIM:613073 Orphanet:1040 metaphyseal anadysplasia
MONDO:0008807 OMIM:207720 - apnea, central sleep
MONDO:0008438 OMIM:182601 Orphanet:100985 hereditary spastic paraplegia 4
MONDO:0007256 OMIM:114550 Orphanet:88673 hepatocellular carcinoma
MONDO:0009211 OMIM:227500 Orphanet:327 congenital factor VII deficiency
MONDO:0005105 OMIM:155755 Orphanet:411533 melanoma
MONDO:0018636 - Orphanet:444463 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
MONDO:0009846 OMIM:260800 Orphanet:2843 pentosuria
MONDO:0007495 OMIM:128230 Orphanet:98808 dystonia 5
MONDO:0011964 OMIM:608093 Orphanet:86309 DPAGT1-CDG
MONDO:0019659 - Orphanet:93258 Pfeiffer syndrome type 1
MONDO:0009251 OMIM:229700 Orphanet:348 fructose-1,6-bisphosphatase deficiency
MONDO:0010038 OMIM:270450 Orphanet:73273 growth delay due to insulin-like growth factor I resistance
MONDO:0012166 OMIM:608984 - autosomal dominant sensory ataxia 1
MONDO:0018136 - Orphanet:352734 minimal pigment oculocutaneous albinism type 1
MONDO:0010187 OMIM:607473 Orphanet:98434 vitamin K-dependent clotting factors, combined deficiency of, type 1
MONDO:0012553 OMIM:610756 Orphanet:191 cerebrooculofacioskeletal syndrome 2
MONDO:0010747 OMIM:314250 Orphanet:53351 X-linked dystonia-parkinsonism
MONDO:0014518 OMIM:616176 Orphanet:438207 platelet-type bleeding disorder 19
MONDO:0032908 OMIM:618774 - CEBALID syndrome
MONDO:0010854 OMIM:600268 Orphanet:3339 Toriello-Lacassie-Droste syndrome
MONDO:0032765 OMIM:618462 - bleeding disorder, platelet-type, 22
MONDO:0014105 OMIM:615269 - hypogonadotropic hypogonadism 19 with or without anosmia
MONDO:0016573 - Orphanet:243367 acute fatty liver of pregnancy
MONDO:0009597 OMIM:250400 Orphanet:2501 metaphyseal chondrodysplasia, Spahr type
MONDO:0018761 - Orphanet:466962 SMARCA4-deficient sarcoma of thorax
MONDO:0016600 - Orphanet:247546 acute neonatal citrullinemia type I
MONDO:0011258 OMIM:602588 Orphanet:52429 branchiootic syndrome 1
MONDO:0044312 OMIM:617425 - immunoskeletal dysplasia with neurodevelopmental abnormalities
MONDO:0014507 OMIM:616145 Orphanet:1388 Catel-Manzke syndrome
MONDO:0014115 OMIM:615281 Orphanet:363412 hypomyelination with brain stem and spinal cord involvement and leg spasticity
MONDO:0007812 OMIM:146750 Orphanet:313 ichthyosis, lamellar, autosomal dominant
MONDO:0011229 OMIM:602473 Orphanet:51188 ethylmalonic encephalopathy
MONDO:0018321 OMIM:615530 Orphanet:391411 atypical juvenile parkinsonism
MONDO:0030048 OMIM:618892 - harderoporphyria
MONDO:0019392 - Orphanet:840 syringocystadenoma papilliferum
MONDO:0017992 OMIM:615895 Orphanet:329173 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
MONDO:0010417 OMIM:300749 Orphanet:163937 syndromic X-linked intellectual disability Najm type
MONDO:0009715 OMIM:255700 Orphanet:614 myotonia congenita, autosomal recessive
MONDO:0009020 OMIM:217800 Orphanet:98969 macular corneal dystrophy
MONDO:0015238 OMIM:603457 Orphanet:1135 arrhinia-choanal atresia-microphthalmia syndrome
MONDO:0009019 OMIM:217700 Orphanet:293603 congenital hereditary endothelial dystrophy of cornea
MONDO:0007843 OMIM:147920 Orphanet:2322 Kabuki syndrome 1
MONDO:0013761 OMIM:614458 Orphanet:293955 childhood encephalopathy due to thiamine pyrophosphokinase deficiency
MONDO:0015993 OMIM:616502 Orphanet:1872 cone-rod dystrophy
MONDO:0014392 OMIM:615905 Orphanet:442835 developmental and epileptic encephalopathy, 25
MONDO:0014835 OMIM:616922 - striatal degeneration, autosomal dominant 2
MONDO:0013755 OMIM:614438 Orphanet:2962 PYCR1-related de Barsy syndrome
MONDO:0014114 OMIM:615280 Orphanet:1340 cardiofaciocutaneous syndrome 4
MONDO:0010524 OMIM:301310 Orphanet:2802 X-linked sideroblastic anemia with ataxia
MONDO:0012664 OMIM:611390 Orphanet:314603 spastic ataxia 3
MONDO:0007564 OMIM:132600 Orphanet:91414 pilomatrixoma
MONDO:0008148 OMIM:616507 Orphanet:216820 osteogenesis imperfecta type 4
MONDO:0014058 OMIM:615139 Orphanet:352712 facial dysmorphism-immunodeficiency-livedo-short stature syndrome
MONDO:0030920 OMIM:617799 Orphanet:178469 intellectual disability, autosomal dominant 54
MONDO:0013873 OMIM:614732 Orphanet:85173 IMAGe syndrome
MONDO:0010884 OMIM:600416 Orphanet:269 muscular dystrophy, scapulohumeral
MONDO:0011464 OMIM:604432 Orphanet:98767 spinocerebellar ataxia type 11
MONDO:0017152 - Orphanet:275803 obsolete pulmonary arterial hypertension associated with congenital heart disease
MONDO:0018907 - Orphanet:54595 craniopharyngioma
MONDO:0014816 OMIM:616890 Orphanet:488232 split-foot malformation-mesoaxial polydactyly syndrome
MONDO:0014236 OMIM:615539 Orphanet:2953 Ehlers-Danlos syndrome, musculocontractural type 2
MONDO:0009061 OMIM:219700 Orphanet:586 cystic fibrosis
MONDO:0007216 OMIM:112600 Orphanet:93396 brachydactyly type A2
MONDO:0034143 - Orphanet:556985 early-onset calcifying leukoencephalopathy-skeletal dysplasia
MONDO:0020512 - Orphanet:99861 precursor T-cell acute lymphoblastic leukemia
MONDO:0013163 OMIM:613159 Orphanet:655 nephronophthisis-like nephropathy 1
MONDO:0032631 OMIM:618248 - mitochondrial complex 1 deficiency, nuclear type 27
MONDO:0011191 OMIM:602089 Orphanet:91415 capillary infantile hemangioma
MONDO:0011443 OMIM:604352 - febrile seizures, familial, 4
MONDO:0017317 - Orphanet:2874 phakomatosis pigmentokeratotica
MONDO:0007585 OMIM:133700 Orphanet:321 exostoses, multiple, type 1
MONDO:0010472 OMIM:300884 Orphanet:324422 developmental and epileptic encephalopathy, 36
MONDO:0012084 OMIM:608643 Orphanet:35708 aromatic L-amino acid decarboxylase deficiency
MONDO:0032800 OMIM:618529 - robinow syndrome, autosomal recessive 2
MONDO:0007067 OMIM:102900 - pyruvate kinase hyperactivity
MONDO:0033630 OMIM:619056 - neurodevelopmental disorder with speech impairment and dysmorphic facies
MONDO:0010099 OMIM:272750 Orphanet:309246 Tay-Sachs disease AB variant
MONDO:0014846 OMIM:616949 Orphanet:404493 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency
MONDO:0013204 OMIM:613268 Orphanet:98974 corneal dystrophy, Fuchs endothelial, 4
MONDO:0008086 OMIM:162400 Orphanet:36386 neuropathy, hereditary sensory and autonomic, type 1A
MONDO:0010498 OMIM:300960 Orphanet:401973 MEND syndrome
MONDO:0018142 OMIM:266150 Orphanet:353314 pyruvate carboxylase deficiency, severe neonatal type
MONDO:0013345 OMIM:613657 Orphanet:79315 d-2-hydroxyglutaric aciduria 2
MONDO:0010526 OMIM:301500 Orphanet:324 Fabry disease
MONDO:0017267 OMIM:606545 Orphanet:281122 self-healing collodion baby
MONDO:0014152 OMIM:615373 Orphanet:54260 left ventricular noncompaction 8
MONDO:0017694 - Orphanet:308552 glycogen storage disease due to acid maltase deficiency, infantile onset
MONDO:0009126 OMIM:223400 Orphanet:1203 duodenal atresia
MONDO:0013051 OMIM:612940 Orphanet:357064 autosomal recessive cutis laxa type 2B
MONDO:0019181 OMIM:309549 Orphanet:777 non-syndromic X-linked intellectual disability
MONDO:0011897 OMIM:607694 Orphanet:88637 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
MONDO:0014336 OMIM:615761 Orphanet:404440 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
MONDO:0009511 OMIM:245600 Orphanet:284139 Larsen-like syndrome, B3GAT3 type
MONDO:0018418 - Orphanet:401815 autosomal recessive spastic paraplegia type 66
MONDO:0014265 OMIM:615590 - Alzheimer disease 18
MONDO:0017724 - Orphanet:309178 Tay-Sachs disease, b variant, infantile form
MONDO:0013050 OMIM:612938 Orphanet:210144 lethal polymalformative syndrome, Boissel type
MONDO:0013293 OMIM:613517 Orphanet:2542 isolated microphthalmia 6
MONDO:0014547 OMIM:616239 Orphanet:444458 combined oxidative phosphorylation defect type 24
MONDO:0007390 OMIM:122700 - coumarin resistance
MONDO:0060621 OMIM:617802 - neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
MONDO:0009580 OMIM:249500 - intellectual disability, autosomal recessive 1
MONDO:0033203 OMIM:617575 Orphanet:506334 nephrotic syndrome 14
MONDO:0017219 OMIM:610829 Orphanet:280200 microform holoprosencephaly
MONDO:0014431 OMIM:615980 Orphanet:435660 LIPE-related familial partial lipodystrophy
MONDO:0009818 OMIM:267200 Orphanet:2785 autosomal recessive osteopetrosis 3
MONDO:0012422 OMIM:610155 - type 1 diabetes mellitus 19
MONDO:0010286 OMIM:300263 Orphanet:85287 syndromic X-linked intellectual disability Siderius type
MONDO:0033683 - Orphanet:508542 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
MONDO:0012683 OMIM:611523 Orphanet:166073 pontocerebellar hypoplasia type 6
MONDO:0008150 OMIM:166250 Orphanet:2645 osteoglophonic dwarfism
MONDO:0009855 OMIM:261515 Orphanet:300 d-bifunctional protein deficiency
MONDO:0012031 OMIM:608404 - platelet-type bleeding disorder 10
MONDO:0014805 OMIM:616863 Orphanet:500055 Hao-Fountain syndrome
MONDO:0014561 OMIM:616271 Orphanet:445038 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
MONDO:0030055 OMIM:618912 - sorbitol dehydrogenase deficiency with peripheral neuropathy
MONDO:0017296 OMIM:307030 Orphanet:284414 glycerol kinase deficiency, adult form
MONDO:0010108 OMIM:300228 Orphanet:99865 testicular germ cell tumor
MONDO:0014455 OMIM:616007 Orphanet:436174 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
MONDO:0012791 OMIM:612073 Orphanet:254803 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
MONDO:0004585 - - polyhydramnios
MONDO:0011951 OMIM:608030 Orphanet:803 amyotrophic lateral sclerosis type 6
MONDO:0014352 OMIM:615812 - abdominal obesity-metabolic syndrome 3
MONDO:0032662 OMIM:618295 - intellectual developmental disorder, autosomal recessive 67
MONDO:0005290 - - rhabdomyolysis
MONDO:0012805 OMIM:612126 Orphanet:98811 childhood onset GLUT1 deficiency syndrome 2
MONDO:0020721 OMIM:300751 Orphanet:75563 X-linked sideroblastic anemia 1
MONDO:0014258 OMIM:615574 Orphanet:391376 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
MONDO:0032815 OMIM:618567 - mitochondrial DNA depletion syndrome 17
MONDO:0018656 OMIM:607694 Orphanet:447896 tremor-ataxia-central hypomyelination syndrome
MONDO:0023691 OMIM:248600 - maple syrup urine disease type 1A
MONDO:0007154 OMIM:108010 Orphanet:46724 arteriovenous malformations of the brain
MONDO:0032685 OMIM:618339 - infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
MONDO:0019487 - Orphanet:86911 epilepsy with myoclonic absences
MONDO:0010880 OMIM:600376 Orphanet:774 telangiectasia, hereditary hemorrhagic, type 2
MONDO:0015884 OMIM:614940 Orphanet:1810 autosomal dominant hypohidrotic ectodermal dysplasia
MONDO:0018045 OMIM:616553 Orphanet:3322 Hoyeraal-Hreidarsson syndrome
MONDO:0032914 OMIM:618781 - ciliary dyskinesia, primary, 44
MONDO:0009999 OMIM:268310 Orphanet:97360 autosomal recessive Robinow syndrome
MONDO:0030012 OMIM:618846 - Diets-Jongmans syndrome
MONDO:0008913 OMIM:212093 - cardiac valvular defect, developmental
MONDO:0018277 OMIM:615351 Orphanet:370959 congenital muscular dystrophy with cerebellar involvement
MONDO:0100296 OMIM:614594 Orphanet:659 Olmsted syndrome 1
MONDO:0012592 OMIM:610968 Orphanet:666 osteogenesis imperfecta type 11
MONDO:0014751 OMIM:616728 Orphanet:477993 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
MONDO:0014335 OMIM:615760 Orphanet:404437 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
MONDO:0012241 OMIM:609286 Orphanet:254892 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
MONDO:0009295 OMIM:232800 Orphanet:371 glycogen storage disease VII
MONDO:0011707 OMIM:606703 Orphanet:324588 familial dyskinesia and facial myokymia
MONDO:0007566 OMIM:132800 Orphanet:65748 multiple self-healing squamous epithelioma
MONDO:0008053 OMIM:160700 - myopia 2, autosomal dominant
MONDO:0008955 OMIM:214150 Orphanet:191 cerebrooculofacioskeletal syndrome 1
MONDO:0007572 OMIM:133100 Orphanet:90042 primary familial polycythemia due to EPO receptor mutation
MONDO:0010194 OMIM:277600 Orphanet:3449 Weill-Marchesani syndrome 1
MONDO:0011895 OMIM:607685 Orphanet:3260 idiopathic hypereosinophilic syndrome
MONDO:0008703 OMIM:609441 Orphanet:2098 acromesomelic dysplasia 2A
MONDO:0020837 OMIM:617996 - oocyte maturation defect 5
MONDO:0008146 OMIM:166230 Orphanet:216796 osteogenesis imperfecta type 1
MONDO:0010209 OMIM:278300 Orphanet:93601 xanthinuria type I
MONDO:0007573 OMIM:133180 Orphanet:318 acute erythroleukemia, familial
MONDO:0013838 OMIM:614652 Orphanet:255249 coenzyme Q10 deficiency, primary, 3
MONDO:0020493 OMIM:209880 Orphanet:99803 Haddad syndrome
MONDO:0007104 OMIM:105500 Orphanet:90020 amyotrophic lateral sclerosis-parkinsonism-dementia complex
MONDO:0019203 OMIM:178500 Orphanet:79126 acute interstitial pneumonia
MONDO:0014870 OMIM:617022 Orphanet:464366 NEK9-related lethal skeletal dysplasia
MONDO:0032697 OMIM:618354 - neurodevelopmental disorder and language delay with or without structural brain abnormalities
MONDO:0016315 - Orphanet:217085 mucopolysaccharidosis type 2, severe form
MONDO:0011804 OMIM:607271 Orphanet:275517 autoimmune lymphoproliferative syndrome type 2B
MONDO:0032909 OMIM:618775 - mitochondrial complex 3 deficiency, nuclear type 10
MONDO:0030963 OMIM:619189 - Li-Campeau syndrome
MONDO:0009268 OMIM:231005 Orphanet:355 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
MONDO:0012784 OMIM:612016 Orphanet:139485 autosomal recessive ataxia due to ubiquinone deficiency
MONDO:0014220 OMIM:615511 Orphanet:45 myopathy due to myoadenylate deaminase deficiency
MONDO:0015699 OMIM:614380 Orphanet:169147 immunodeficiency due to a classical component pathway complement deficiency
MONDO:0009614 OMIM:251110 Orphanet:79311 vitamin B12-responsive methylmalonic acidemia type cblB
MONDO:0007417 OMIM:124200 Orphanet:218 Darier disease
MONDO:0044648 - Orphanet:496689 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
MONDO:0005377 OMIM:615861 - nephrotic syndrome
MONDO:0009736 OMIM:616038 - Neu-Laxova syndrome 1
MONDO:0012824 OMIM:612233 Orphanet:280288 hypomyelinating leukodystrophy 4
MONDO:0015713 - Orphanet:169615 idiopathic central precocious puberty
MONDO:0009401 OMIM:239510 Orphanet:79101 hyperprolinemia type 2
MONDO:0010829 OMIM:600142 Orphanet:199354 CARASIL syndrome
MONDO:0005036 - Orphanet:464463 gastric adenocarcinoma
MONDO:0010789 OMIM:540000 Orphanet:550 MELAS syndrome
MONDO:0020713 OMIM:265450 - pulmonary venoocclusive disease 1
MONDO:0032925 OMIM:618803 - respiratory papillomatosis, juvenile recurrent, congenital
MONDO:0010660 OMIM:309549 Orphanet:777 intellectual disability, X-linked 9
MONDO:0014554 - - obsolete infantile multisystem neurologic-endocrine-pancreatic disease
MONDO:0007453 OMIM:125851 Orphanet:552 maturity-onset diabetes of the young type 2
MONDO:0010075 OMIM:271640 Orphanet:93359 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
MONDO:0032566 OMIM:618156 - squalene synthase deficiency
MONDO:0005224 - Orphanet:98833 acute myeloblastic leukemia without maturation
MONDO:0011933 OMIM:607906 Orphanet:79326 ALG2-CDG
MONDO:0008082 OMIM:162300 Orphanet:653 multiple endocrine neoplasia type 2B
MONDO:0011751 OMIM:606963 - COPD, severe early onset
MONDO:0032564 OMIM:618154 - hennekam lymphangiectasia-lymphedema syndrome 3
MONDO:0007220 OMIM:113000 Orphanet:93383 brachydactyly type B1
MONDO:0018218 - Orphanet:363969 autosomal recessive cerebral atrophy
MONDO:0017699 OMIM:232500 Orphanet:308684 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
MONDO:0030907 OMIM:300997 - intellectual disability, X-linked 106
MONDO:0009946 OMIM:266120 Orphanet:35120 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
MONDO:0013092 OMIM:613028 Orphanet:182067 glioma susceptibility 2
MONDO:0002321 - - sensory peripheral neuropathy
MONDO:0013664 OMIM:614279 Orphanet:90796 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
MONDO:0009315 OMIM:234000 Orphanet:330 congenital factor XII deficiency
MONDO:0009388 OMIM:238710 Orphanet:2203 hyperlysinemia
MONDO:0009603 OMIM:250620 Orphanet:88639 3-hydroxyisobutyryl-CoA hydrolase deficiency
MONDO:0010664 OMIM:309583 Orphanet:3063 syndromic X-linked intellectual disability Snyder type
MONDO:0016674 OMIM:616425 Orphanet:251510 46,XY partial gonadal dysgenesis
MONDO:0009666 OMIM:253270 Orphanet:79242 holocarboxylase synthetase deficiency
MONDO:0011144 OMIM:601780 Orphanet:79262 ceroid lipofuscinosis, neuronal, 6A
MONDO:0013483 OMIM:613886 - obesity, hyperphagia, and developmental delay
MONDO:0008295 OMIM:176090 Orphanet:443057 sporadic porphyria cutanea tarda
MONDO:0019005 OMIM:615862 Orphanet:655 nephronophthisis
MONDO:0030067 OMIM:618939 - treacher collins syndrome 4
MONDO:0014702 OMIM:616586 Orphanet:447760 autosomal recessive complex spastic paraplegia type 9B
MONDO:0014022 OMIM:615041 Orphanet:899 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
MONDO:0010201 OMIM:277950 - Winchester syndrome
MONDO:0008290 OMIM:175800 Orphanet:735 porokeratosis 1, Mibelli type
MONDO:0013760 OMIM:614457 Orphanet:352333 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
MONDO:0007436 OMIM:125400 Orphanet:99789 dentin dysplasia type I
MONDO:0009258 OMIM:230400 Orphanet:79239 classic galactosemia
MONDO:0011783 OMIM:607143 Orphanet:79324 ALG12-CDG
MONDO:0008935 OMIM:605672 Orphanet:1173 cerebellar ataxia-hypogonadism syndrome
MONDO:0008297 OMIM:176200 Orphanet:79473 variegate porphyria
MONDO:0010790 OMIM:545000 Orphanet:551 MERRF syndrome
MONDO:0010523 OMIM:301220 Orphanet:85453 X-linked reticulate pigmentary disorder
MONDO:0013226 OMIM:613328 Orphanet:221139 combined immunodeficiency with faciooculoskeletal anomalies
MONDO:0014010 OMIM:615023 Orphanet:79394 autosomal recessive congenital ichthyosis 9
MONDO:0032650 OMIM:618276 - neurodegeneration, childhood-onset, with cerebellar atrophy
MONDO:0019264 OMIM:609241 Orphanet:79281 alpha-N-acetylgalactosaminidase deficiency type 3
MONDO:0023113 OMIM:114500 - familial colorectal cancer
MONDO:0007586 OMIM:133701 Orphanet:321 exostoses, multiple, type 2
MONDO:0014487 OMIM:616084 Orphanet:369861 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
MONDO:0014396 OMIM:615916 - dilated cardiomyopathy 1NN
MONDO:0008948 OMIM:213700 Orphanet:909 cerebrotendinous xanthomatosis
MONDO:0012622 OMIM:611105 Orphanet:137898 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
MONDO:0030919 OMIM:617798 Orphanet:178469 intellectual disability, autosomal dominant 53
MONDO:0032939 OMIM:618825 - intellectual developmental disorder, autosomal dominant 63, with macrocephaly
MONDO:0020781 OMIM:617186 Orphanet:555407 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
MONDO:0020341 OMIM:617201 Orphanet:98892 periventricular nodular heterotopia
MONDO:0007080 OMIM:103900 Orphanet:403 glucocorticoid-remediable aldosteronism
OMIM:619647 OMIM:619647 - DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE
MONDO:0013186 OMIM:613224 Orphanet:648 Noonan syndrome 6
MONDO:0010466 OMIM:300868 Orphanet:300496 multiple congenital anomalies-hypotonia-seizures syndrome 2
MONDO:0019261 OMIM:256730 Orphanet:79263 infantile neuronal ceroid lipofuscinosis
MONDO:0021548 OMIM:616509 Orphanet:98994 total early-onset cataract
MONDO:0015270 OMIM:617936 Orphanet:132 butyrylcholinesterase deficiency
MONDO:0014829 OMIM:616911 - immunodeficiency-centromeric instability-facial anomalies syndrome 4
MONDO:0011125 OMIM:601675 Orphanet:670 trichothiodystrophy 1, photosensitive
MONDO:0032655 OMIM:618283 - visual impairment and progressive phthisis bulbi
MONDO:0015715 - Orphanet:169793 severe hemophilia B
MONDO:0031007 OMIM:619260 - spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
MONDO:0054701 OMIM:617768 - Kleefstra syndrome 2
MONDO:0015003 OMIM:617282 Orphanet:508093 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
MONDO:0008865 OMIM:210370 Orphanet:41751 Bietti crystalline corneoretinal dystrophy
MONDO:0009212 OMIM:227600 Orphanet:328 congenital factor X deficiency
MONDO:0009240 OMIM:229100 Orphanet:51208 formiminoglutamic aciduria
MONDO:0010945 OMIM:600852 - retinitis pigmentosa 17
MONDO:0030835 OMIM:619090 - developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
MONDO:0018338 OMIM:616005 Orphanet:397596 activated PI3K-delta syndrome
MONDO:0016216 - Orphanet:210159 adult hepatocellular carcinoma
MONDO:0014028 OMIM:615065 Orphanet:329457 distal arthrogryposis type 5D
MONDO:0030007 OMIM:618838 - combined oxidative phosphorylation deficiency 41
MONDO:0010528 OMIM:301700 - anosmia
MONDO:0010407 OMIM:309590 Orphanet:85328 intellectual disability, X-linked syndromic, Turner type
MONDO:0030971 OMIM:619220 - immunodeficiency 78 with autoimmunity and developmental delay
MONDO:0013659 OMIM:614261 Orphanet:294016 microcephaly-capillary malformation syndrome
MONDO:0007205 OMIM:112250 Orphanet:85182 diaphyseal medullary stenosis-bone malignancy syndrome
MONDO:0024532 OMIM:166780 Orphanet:2792 otofaciocervical syndrome 1
MONDO:0011485 OMIM:604777 Orphanet:313 autosomal recessive congenital ichthyosis 5
MONDO:0013458 OMIM:613845 Orphanet:363694 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
MONDO:0024533 OMIM:178600 Orphanet:422 pulmonary hypertension, primary, 1
MONDO:0012098 OMIM:608687 Orphanet:101110 spinocerebellar ataxia type 20
MONDO:0018939 OMIM:615350 Orphanet:588 muscle-eye-brain disease
MONDO:0014791 OMIM:616831 - Luscan-Lumish syndrome
MONDO:0014098 OMIM:615238 Orphanet:435651 CIDEC-related familial partial lipodystrophy
MONDO:0012256 OMIM:609340 Orphanet:101008 hereditary spastic paraplegia 28
MONDO:0014423 OMIM:615966 Orphanet:317425 severe combined immunodeficiency due to DNA-PKcs deficiency
MONDO:0018422 - Orphanet:401835 autosomal recessive spastic paraplegia type 70
MONDO:0007483 OMIM:127400 Orphanet:41 dyschromatosis symmetrica hereditaria
MONDO:0100345 OMIM:223100 Orphanet:319681 lactose intolerance
MONDO:0014499 OMIM:616116 - intellectual disability, autosomal recessive 46
MONDO:0012231 OMIM:609260 Orphanet:99947 Charcot-Marie-Tooth disease type 2A2
MONDO:0032624 OMIM:618241 - mitochondrial complex 1 deficiency, nuclear type 19
MONDO:0007900 OMIM:151600 Orphanet:2387 nonsyndromic congenital nail disorder 3
MONDO:0011400 OMIM:604145 - dilated cardiomyopathy 1G
MONDO:0014367 OMIM:615846 Orphanet:51 Aicardi-Goutieres syndrome 7
MONDO:0011872 OMIM:607624 Orphanet:79477 Griscelli syndrome type 2
MONDO:0007947 OMIM:610168 Orphanet:558 Marfan syndrome
MONDO:0014962 OMIM:617188 - intellectual disability, autosomal recessive 57
MONDO:0009469 OMIM:243300 Orphanet:99960 benign recurrent intrahepatic cholestasis type 1
MONDO:0013739 OMIM:614415 Orphanet:90280 chilblain lupus 2
MONDO:0007759 OMIM:144250 - hyperlipidemia, familial combined, LPL related
MONDO:0009283 OMIM:231690 Orphanet:35706 glutaric acidemia type 3
MONDO:0012613 OMIM:611091 - intellectual disability, autosomal recessive 5
MONDO:0010338 OMIM:300489 Orphanet:139557 X-linked distal spinal muscular atrophy type 3
MONDO:0018328 OMIM:603813 Orphanet:391665 homozygous familial hypercholesterolemia
MONDO:0044626 - Orphanet:488191 female infertility due to oocyte meiotic arrest
MONDO:0013127 OMIM:613091 Orphanet:93270 asphyxiating thoracic dystrophy 3
MONDO:0002442 - Orphanet:768 long QT syndrome
MONDO:0008566 OMIM:188470 Orphanet:319487 thyroid cancer, nonmedullary, 2
MONDO:0014012 OMIM:615025 Orphanet:329258 Charcot-Marie-Tooth disease axonal type 2Q
MONDO:0011724 OMIM:606777 Orphanet:71277 encephalopathy due to GLUT1 deficiency
MONDO:0006033 - Orphanet:497188 diffuse intrinsic pontine glioma
MONDO:0013934 OMIM:614868 Orphanet:314689 combined immunodeficiency due to STK4 deficiency
MONDO:0010168 OMIM:614990 Orphanet:886 Usher syndrome type 1
MONDO:0017116 - Orphanet:269505 congenital communicating hydrocephalus
MONDO:0010998 OMIM:601110 Orphanet:79321 ALG3-CDG
MONDO:0018278 OMIM:615351 Orphanet:370968 congenital muscular dystrophy with intellectual disability
MONDO:0014893 OMIM:617062 - Okur-Chung neurodevelopmental syndrome
MONDO:0013799 OMIM:614546 - efavirenz, poor metabolism of
MONDO:0001384 - - myopia
MONDO:0009567 OMIM:248800 Orphanet:559 Marinesco-Sjogren syndrome
MONDO:0018494 - Orphanet:423306 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
MONDO:0009637 OMIM:251900 Orphanet:206966 inborn mitochondrial myopathy
MONDO:0012967 OMIM:612631 Orphanet:86817 hemolytic anemia due to adenylate kinase deficiency
MONDO:0060577 OMIM:617709 - neurodevelopmental disorder with microcephaly, ataxia, and seizures
MONDO:0012897 OMIM:612416 Orphanet:329 congenital factor XI deficiency
MONDO:0010143 OMIM:275210 Orphanet:1662 lethal restrictive dermopathy
MONDO:0012531 OMIM:610651 Orphanet:910 xeroderma pigmentosum group B
MONDO:0013771 OMIM:614480 Orphanet:300293 transient infantile hypertriglyceridemia and hepatosteatosis
MONDO:0020853 OMIM:618113 - encephalitis/encephalopathy, mild, with reversible myelin vacuolization
MONDO:0008221 OMIM:170100 Orphanet:742 prolidase deficiency
MONDO:0014015 OMIM:615030 Orphanet:320411 hereditary spastic paraplegia 56
MONDO:0014978 OMIM:617234 - preimplantation embryonic lethality 2
MONDO:0010820 OMIM:600116 Orphanet:2828 autosomal recessive juvenile Parkinson disease 2
MONDO:0010471 OMIM:300882 Orphanet:199 Cornelia de Lange syndrome 5
MONDO:0044723 OMIM:617248 Orphanet:505208 3-methylglutaconic aciduria type 8
MONDO:0054732 OMIM:618086 - spermatogenic failure 28
MONDO:0054764 OMIM:617917 - neurodegeneration with brain iron accumulation 8
OMIM:619575 OMIM:619575 - DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
MONDO:0011038 OMIM:601338 Orphanet:1171 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
MONDO:0008333 OMIM:177850 Orphanet:758 pseudoxanthoma elasticum, forme fruste
MONDO:0013695 OMIM:614331 Orphanet:144 colorectal cancer, hereditary nonpolyposis, type 6
MONDO:0014758 OMIM:616738 - radioulnar synostosis with amegakaryocytic thrombocytopenia 2
MONDO:0013301 OMIM:613546 Orphanet:91 aromatase deficiency
MONDO:0018310 OMIM:604856 Orphanet:389 Langerhans cell histiocytosis
MONDO:0011424 OMIM:604287 Orphanet:139411 Carney triad
MONDO:0014495 OMIM:616108 Orphanet:436245 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
MONDO:0016309 - Orphanet:216981 Niemann-Pick disease type C, juvenile neurologic onset
MONDO:0013617 OMIM:614192 - obsolete overgrowth-macrocephaly-facial dysmorphism syndrome
MONDO:0011156 OMIM:615878 Orphanet:79304 progressive familial intrahepatic cholestasis type 2
MONDO:0032780 OMIM:618493 - hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
MONDO:0014570 OMIM:616287 Orphanet:2680 lethal congenital contracture syndrome 8
MONDO:0015025 OMIM:617339 - developmental and epileptic encephalopathy, 51
MONDO:0013571 OMIM:614097 Orphanet:926 acatalasia
MONDO:0016865 - Orphanet:261652 Kleefstra syndrome due to a point mutation
MONDO:0014638 OMIM:616435 - Fanconi anemia complementation group T
MONDO:0009902 OMIM:263700 Orphanet:79277 cutaneous porphyria
MONDO:0032789 OMIM:618504 - intellectual developmental disorder, autosomal recessive 71
MONDO:0009562 OMIM:248510 Orphanet:118 beta-mannosidosis
MONDO:0009665 OMIM:253260 Orphanet:79241 biotinidase deficiency
MONDO:0012041 OMIM:608456 Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis
MONDO:0034146 - Orphanet:557056 spastic ataxia-dysarthria due to glutaminase deficiency
MONDO:0030006 OMIM:618835 Orphanet:570491 combined oxidative phosphorylation deficiency 40
MONDO:0005015 OMIM:612227 - diabetes mellitus
MONDO:0007690 OMIM:139300 Orphanet:178345 aromatase excess syndrome
MONDO:0012197 OMIM:614743 Orphanet:88 idiopathic aplastic anemia
MONDO:0010898 OMIM:616461 Orphanet:101046 Autosomal dominant epilepsy with auditory features
MONDO:0012891 OMIM:612390 Orphanet:2524 pontocerebellar hypoplasia type 2C
MONDO:0020734 OMIM:612874 Orphanet:45 erythrocyte AMP deaminase deficiency
MONDO:0008858 OMIM:210000 Orphanet:1239 Behr syndrome
MONDO:0014109 OMIM:615273 Orphanet:404454 NGLY1-deficiency
MONDO:0032705 OMIM:618367 Orphanet:597874 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
MONDO:0011093 OMIM:601492 Orphanet:67041 mucopolysaccharidosis type 9
MONDO:0018759 - Orphanet:466921 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
MONDO:0014644 OMIM:616451 Orphanet:468661 hereditary spastic paraplegia 74
MONDO:0014647 OMIM:616457 Orphanet:448010 developmental and epileptic encephalopathy, 50
MONDO:0009744 OMIM:610127 Orphanet:79264 neuronal ceroid lipofuscinosis 1
MONDO:0008788 OMIM:206200 Orphanet:209981 IRIDA syndrome
MONDO:0010441 OMIM:300831 Orphanet:251383 CK syndrome
MONDO:0006040 - - lactic acidosis
MONDO:0011508 OMIM:605027 Orphanet:547 lymphoma, non-Hodgkin, familial
MONDO:0014656 OMIM:616479 Orphanet:329336 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
MONDO:0009345 OMIM:235800 Orphanet:2157 histidinemia
MONDO:0017051 OMIM:248600 Orphanet:268145 classic maple syrup urine disease
MONDO:0012091 OMIM:608653 - autosomal recessive nonsyndromic hearing loss 32
MONDO:0018266 - Orphanet:370109 ataxia - telangiectasia variant
MONDO:0009260 OMIM:230500 Orphanet:79255 GM1 gangliosidosis type 1
MONDO:0011743 OMIM:606889 - Alzheimer disease 4
MONDO:0011198 OMIM:602111 Orphanet:93356 spondyloepimetaphyseal dysplasia, Missouri type
MONDO:0009066 OMIM:219900 Orphanet:411634 juvenile nephropathic cystinosis
MONDO:0016369 OMIM:268400 Orphanet:221016 Rothmund-Thomson syndrome type 2
MONDO:0011031 OMIM:601316 - autosomal dominant nonsyndromic hearing loss 10
MONDO:0014871 OMIM:617023 - retinitis pigmentosa 75
MONDO:0007576 OMIM:133239 Orphanet:99977 esophageal cancer
MONDO:0013972 OMIM:614926 Orphanet:2855 Perrault syndrome 2
MONDO:0007646 OMIM:137200 Orphanet:324442 Gamstorp-Wohlfart syndrome
MONDO:0017304 - Orphanet:284804 ocular albinism
MONDO:0009296 OMIM:232900 - glycoprotein storage disease
MONDO:0025351 OMIM:301056 - multiple congenital anomalies-neurodevelopmental syndrome, x-linked
MONDO:0054680 OMIM:617719 - epiphyseal dysplasia, multiple, 7
MONDO:0014113 OMIM:615279 Orphanet:1340 cardiofaciocutaneous syndrome 3
MONDO:0017353 - Orphanet:289857 neonatal glycine encephalopathy
MONDO:0015470 OMIM:615916 Orphanet:154 familial isolated dilated cardiomyopathy
MONDO:0017939 OMIM:602771 Orphanet:324604 classic multiminicore myopathy
MONDO:0015679 OMIM:612004 Orphanet:168629 autosomal thrombocytopenia with normal platelets
MONDO:0010160 OMIM:276600 Orphanet:28378 tyrosinemia type II
MONDO:0008895 OMIM:211800 Orphanet:289601 hereditary arterial and articular multiple calcification syndrome
MONDO:0013076 OMIM:613003 - attention deficit-hyperactivity disorder, susceptibility to, 7
MONDO:0013371 OMIM:613694 Orphanet:154 dilated cardiomyopathy 1U
MONDO:0012307 OMIM:609579 Orphanet:168624 familial scaphocephaly syndrome, McGillivray type
MONDO:0020355 - Orphanet:98943 coloboma of eye lens
MONDO:0020632 OMIM:618012 - epileptic encephalopathy, infantile or early childhood, 3
MONDO:0044657 OMIM:617017 Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2
MONDO:0011346 OMIM:603592 Orphanet:93602 xanthinuria type II
MONDO:0007492 OMIM:602554 Orphanet:256 early-onset generalized limb-onset dystonia
MONDO:0019549 - Orphanet:90118 severe early-onset axonal neuropathy due to MFN2 deficiency
MONDO:0012860 OMIM:612304 Orphanet:745 thrombophilia due to protein C deficiency, autosomal recessive
MONDO:0009970 OMIM:267430 Orphanet:97369 renal tubular dysgenesis of genetic origin
MONDO:0015275 OMIM:600309 Orphanet:1330 partial atrioventricular canal
MONDO:0007738 OMIM:143095 Orphanet:263463 spondyloepiphyseal dysplasia with congenital joint dislocations
MONDO:0013978 OMIM:614934 - autosomal recessive nonsyndromic hearing loss 70
MONDO:0032643 OMIM:618266 - pontocerebellar hypoplasia, type 12
MONDO:0024528 OMIM:157640 Orphanet:254892 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
MONDO:0018996 OMIM:606002 Orphanet:64753 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
MONDO:0011740 OMIM:606864 Orphanet:97286 Carney-Stratakis syndrome
MONDO:0015004 OMIM:617284 Orphanet:589618 dystonia 28, childhood-onset
MONDO:0017831 - Orphanet:314918 mild Canavan disease
MONDO:0011027 OMIM:601283 - diabetes mellitus, noninsulin-dependent, 1
MONDO:0033091 OMIM:617571 - ichthyosis, congenital, autosomal recessive 14
MONDO:0013728 OMIM:614390 - pregnancy loss, recurrent, susceptibility to, 2
MONDO:0019306 OMIM:615024 Orphanet:79394 congenital non-bullous ichthyosiform erythroderma
MONDO:0019148 OMIM:278000 Orphanet:75233 Wolman disease
MONDO:0014753 OMIM:617302 Orphanet:98676 autosomal recessive optic atrophy
MONDO:0012581 OMIM:610915 Orphanet:666 osteogenesis imperfecta type 8
MONDO:0009609 OMIM:250940 Orphanet:622 methylcobalamin deficiency type cblG
MONDO:0044332 - Orphanet:494541 childhood-onset benign chorea with striatal involvement
MONDO:0009556 OMIM:248360 Orphanet:943 malonic aciduria
MONDO:0010437 OMIM:300816 Orphanet:238329 severe X-linked mitochondrial encephalomyopathy
MONDO:0014317 OMIM:615715 Orphanet:401764 pancytopenia-developmental delay syndrome
MONDO:0060457 OMIM:617388 - autoinflammation with arthritis and dyskeratosis
MONDO:0100062 OMIM:616341 Orphanet:1934 developmental and epileptic encephalopathy
MONDO:0033669 OMIM:619087 - Noonan syndrome 13
MONDO:0008097 OMIM:163200 Orphanet:2612 linear nevus sebaceous syndrome
MONDO:0011908 OMIM:607785 Orphanet:86834 juvenile myelomonocytic leukemia
MONDO:0008842 OMIM:208920 Orphanet:1168 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
MONDO:0014902 OMIM:617075 - nasopharyngeal carcinoma, susceptibility to, 3
MONDO:0008099 OMIM:163500 Orphanet:215 congenital stationary night blindness autosomal dominant 2
MONDO:0033640 OMIM:619073 - vitamin D-dependent rickets, type 3
MONDO:0012345 OMIM:609796 Orphanet:263534 acral peeling skin syndrome
MONDO:0018642 - Orphanet:447731 NIK deficiency
MONDO:0008214 OMIM:169400 - Pelger-Huet anomaly
MONDO:0005580 OMIM:133239 Orphanet:99977 esophageal squamous cell carcinoma
MONDO:0005595 OMIM:275355 Orphanet:494550 laryngeal squamous cell carcinoma
MONDO:0013633 OMIM:614212 Orphanet:263524 encephalopathy, acute, infection-induced, susceptibility to, 4
MONDO:0008276 OMIM:174900 Orphanet:329971 generalized juvenile polyposis/juvenile polyposis coli
MONDO:0014648 OMIM:616459 - Al-Raqad syndrome
MONDO:0005260 OMIM:209850 - autism
MONDO:0008939 OMIM:213000 Orphanet:2246 isolated cerebellar hypoplasia/agenesis
MONDO:0012612 OMIM:611090 - intellectual disability, autosomal recessive 12
MONDO:0014711 OMIM:616625 Orphanet:488333 autosomal dominant Charcot-Marie-Tooth disease type 2W
MONDO:0014575 OMIM:616298 Orphanet:85191 Singleton-Merten syndrome 2
MONDO:0016364 OMIM:617121 Orphanet:220493 Joubert syndrome with ocular defect
MONDO:0018614 OMIM:617166 Orphanet:442835 undetermined early-onset epileptic encephalopathy
MONDO:0009245 - - obsolete Friedreich ataxia
MONDO:0012160 OMIM:608940 Orphanet:85167 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
MONDO:0007343 OMIM:119900 Orphanet:217059 isolated congenital digital clubbing
MONDO:0014593 OMIM:616339 - developmental and epileptic encephalopathy, 29
MONDO:0060585 OMIM:617721 - neuronopathy, distal hereditary motor, type 9
MONDO:0014920 OMIM:617111 Orphanet:466718 patterned macular dystrophy 3
MONDO:0008742 OMIM:613107 Orphanet:486 autosomal dominant severe congenital neutropenia
MONDO:0013187 OMIM:613225 Orphanet:331 factor XIII, A subunit, deficiency of
MONDO:0014912 OMIM:617099 Orphanet:500062 infantile-onset periodic fever-panniculitis-dermatosis syndrome
MONDO:0014970 OMIM:617214 - spermatogenic failure 17
MONDO:0008547 OMIM:187601 Orphanet:93274 thanatophoric dysplasia type 2
MONDO:0013584 OMIM:614116 Orphanet:456318 hereditary sensory neuropathy-deafness-dementia syndrome
MONDO:0020492 - Orphanet:99802 hemimegalencephaly
MONDO:0032604 OMIM:618220 - retinitis pigmentosa 84
MONDO:0011684 OMIM:606579 - vitiligo-associated multiple autoimmune disease susceptibility 1
MONDO:0010035 OMIM:270400 Orphanet:818 Smith-Lemli-Opitz syndrome
MONDO:0011725 OMIM:606785 Orphanet:79235 Crigler-Najjar syndrome type 2
MONDO:0009068 OMIM:220110 Orphanet:254905 cytochrome-c oxidase deficiency disease
MONDO:0021230 - - uterine cervix neoplasm
MONDO:0008980 OMIM:215470 Orphanet:1180 ataxia-hypogonadism-choroidal dystrophy syndrome
MONDO:0017333 - Orphanet:289494 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
MONDO:0008692 OMIM:200100 Orphanet:14 abetalipoproteinemia
MONDO:0007854 OMIM:148370 Orphanet:50943 keratolytic winter erythema
MONDO:0017171 - Orphanet:276212 mucopolysaccharidosis type 6, rapidly progressing
MONDO:0020356 OMIM:120200 Orphanet:98944 coloboma of iris
MONDO:0009908 OMIM:264070 Orphanet:238583 pterin-4 alpha-carbinolamine dehydratase 1 deficiency
MONDO:0014568 OMIM:616282 Orphanet:444099 hereditary spastic paraplegia 73
MONDO:0012687 OMIM:611543 Orphanet:464760 familial cavitary optic disc anomaly
MONDO:0011534 OMIM:605285 Orphanet:99953 Charcot-Marie-Tooth disease type 4G
MONDO:0012691 OMIM:611554 Orphanet:500 LEOPARD syndrome 2
MONDO:0010577 OMIM:304500 Orphanet:90625 hearing loss, X-linked 1
MONDO:0013587 OMIM:614128 Orphanet:284435 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
MONDO:0012682 OMIM:611521 Orphanet:331226 immunodeficiency 35
MONDO:0013381 OMIM:613708 Orphanet:36386 neuropathy, hereditary sensory, type 1D
MONDO:0010225 OMIM:310468 Orphanet:93622 Dent disease type 1
MONDO:0009737 OMIM:256540 Orphanet:351 galactosialidosis
MONDO:0002911 - - brain stem glioma
MONDO:0019314 - Orphanet:79455 cutaneous mastocytoma
MONDO:0033853 - Orphanet:521432 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
MONDO:0007470 OMIM:126550 Orphanet:85192 calvarial doughnut lesions-bone fragility syndrome
MONDO:0026777 OMIM:301054 Orphanet:596753 VEXAS syndrome
MONDO:0012970 OMIM:612634 - microvascular complications of diabetes, susceptibility to, 6
MONDO:0012793 OMIM:612076 Orphanet:94088 hypouricemia, renal, 2
MONDO:0017728 - Orphanet:309239 Tay-Sachs disease, B1 variant
MONDO:0008055 OMIM:160800 Orphanet:614 myotonia congenita, autosomal dominant
MONDO:0008434 OMIM:182290 Orphanet:819 Smith-Magenis syndrome
MONDO:0009113 OMIM:222800 Orphanet:714 hemolytic anemia due to diphosphoglycerate mutase deficiency
MONDO:0030877 OMIM:619143 - cardioacrofacial dysplasia 2
MONDO:0017167 - Orphanet:276145 malignant epithelial tumor of salivary glands
MONDO:0010519 OMIM:301040 Orphanet:847 alpha thalassemia-X-linked intellectual disability syndrome
MONDO:0012495 OMIM:610442 Orphanet:168454 spondyloepimetaphyseal dysplasia, Genevieve type
MONDO:0015522 - Orphanet:157769 situs ambiguus
MONDO:0024266 OMIM:617039 Orphanet:466729 patent ductus arteriosus 3
MONDO:0007326 - - obsolete paroxysmal nonkinesigenic dyskinesia 1
MONDO:0013164 OMIM:613161 Orphanet:65287 beta-ureidopropionase deficiency
MONDO:0005453 OMIM:615779 - congenital heart disease
MONDO:0011798 OMIM:607236 Orphanet:157855 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
MONDO:0009697 OMIM:254780 Orphanet:501 Lafora disease
MONDO:0010489 OMIM:300928 - intellectual disability, X-linked 101
MONDO:0012381 OMIM:609968 Orphanet:263458 hyperinsulinism due to INSR deficiency
MONDO:0010047 OMIM:270800 Orphanet:100986 hereditary spastic paraplegia 5A
MONDO:0054837 OMIM:618050 - intellectual disability, autosomal dominant 57
MONDO:0040502 OMIM:617825 - glucocorticoid deficiency 5
MONDO:0010013 OMIM:269250 Orphanet:3144 schneckenbecken dysplasia
MONDO:0033635 OMIM:619046 - mitochondrial complex 4 deficiency, nuclear type 3
MONDO:0033563 OMIM:619007 - retinitis pigmentosa 90
MONDO:0060702 OMIM:617974 - spondyloepimetaphyseal dysplasia, di rocco type
MONDO:0013602 OMIM:614165 Orphanet:29072 paragangliomas 5
MONDO:0009372 OMIM:236800 Orphanet:79155 encephalopathy due to hydroxykynureninuria
MONDO:0014132 OMIM:615330 Orphanet:363424 multiple mitochondrial dysfunctions syndrome 3
MONDO:0030072 OMIM:618959 - developmental and epileptic encephalopathy, 88
MONDO:0014595 OMIM:616341 Orphanet:3451 developmental and epileptic encephalopathy, 30
MONDO:0009643 OMIM:252150 Orphanet:99732 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
MONDO:0009058 OMIM:219500 Orphanet:212 cystathioninuria
MONDO:0008892 OMIM:211600 Orphanet:79306 progressive familial intrahepatic cholestasis type 1
MONDO:0014256 OMIM:615565 - retinitis pigmentosa 67
MONDO:0009903 OMIM:263750 Orphanet:246 postaxial acrofacial dysostosis
MONDO:0011022 OMIM:601224 Orphanet:52022 Potocki-Shaffer syndrome
MONDO:0007546 OMIM:131440 Orphanet:86830 myeloproliferative disorder, chronic, with eosinophilia
MONDO:0044320 OMIM:617460 Orphanet:791 retinitis pigmentosa 79
MONDO:0014286 OMIM:615632 Orphanet:36386 neuropathy, hereditary sensory, type 1F
MONDO:0017732 - Orphanet:309282 alpha-mannosidosis, infantile form
MONDO:0010028 OMIM:604369 Orphanet:3166 sialuria
MONDO:0018143 OMIM:266150 Orphanet:353320 pyruvate carboxylase deficiency, benign type
MONDO:0011784 OMIM:607151 Orphanet:2573 Moyamoya disease 2
MONDO:0014571 OMIM:616289 - optic atrophy 9
MONDO:0012359 OMIM:609889 Orphanet:231154 combined immunodeficiency due to partial RAG1 deficiency
MONDO:0010299 OMIM:300323 Orphanet:79233 hypoxanthine guanine phosphoribosyltransferase partial deficiency
MONDO:0032927 OMIM:618805 - triokinase and FMN cyclase deficiency syndrome
MONDO:0016002 OMIM:225400 Orphanet:1900 Ehlers-Danlos syndrome, kyphoscoliotic type 1
MONDO:0013409 OMIM:613761 - age related macular degeneration 5
MONDO:0060715 OMIM:617994 - tumoral calcinosis, hyperphosphatemic, familial, 3
MONDO:0013410 OMIM:613762 Orphanet:251510 46,XY sex reversal 6
MONDO:0013882 OMIM:614749 Orphanet:247262 hyperphosphatasia with intellectual disability syndrome 2
MONDO:0012690 OMIM:611553 Orphanet:648 Noonan syndrome 5
MONDO:0008840 OMIM:208910 Orphanet:100 ataxia telangiectasia
MONDO:0024552 OMIM:309801 Orphanet:2556 linear skin defects with multiple congenital anomalies 1
MONDO:0020437 - Orphanet:99106 atrial septal defect, ostium primum type
MONDO:0030008 OMIM:618839 - combined oxidative phosphorylation deficiency 42
MONDO:0017176 - Orphanet:276244 Machado-Joseph disease type 3
MONDO:0008747 OMIM:203290 Orphanet:79433 oculocutaneous albinism type 3
MONDO:0014877 OMIM:617030 - myopathy, distal, 5
MONDO:0017733 - Orphanet:309288 alpha-mannosidosis, adult form
MONDO:0007356 OMIM:120435 Orphanet:144 Lynch syndrome 1
MONDO:0013156 OMIM:613152 Orphanet:370980 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
MONDO:0013570 OMIM:614096 Orphanet:319504 combined oxidative phosphorylation defect type 8
MONDO:0018113 OMIM:616602 Orphanet:35098 isolated plagiocephaly
MONDO:0009262 OMIM:230650 Orphanet:79257 GM1 gangliosidosis type 3
MONDO:0009329 OMIM:234810 Orphanet:199241 pulmonary venoocclusive disease 2
MONDO:0013157 OMIM:613153 Orphanet:899 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
MONDO:0019642 OMIM:600785 Orphanet:93160 vitamin D-dependent rickets, type 2
MONDO:0011888 OMIM:607676 Orphanet:70592 immunodeficiency 67
MONDO:0008420 OMIM:182000 - seborrheic keratosis
MONDO:0012414 OMIM:610127 Orphanet:79264 neuronal ceroid lipofuscinosis 10
MONDO:0009757 OMIM:257220 Orphanet:646 Niemann-Pick disease, type C1
MONDO:0033682 - Orphanet:508533 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
MONDO:0010212 OMIM:278730 Orphanet:910 xeroderma pigmentosum group D
MONDO:0009114 OMIM:222900 Orphanet:35122 congenital sucrase-isomaltase deficiency
MONDO:0015339 OMIM:300100 Orphanet:139399 adrenomyeloneuropathy
MONDO:0032579 OMIM:618175 - warburg-cinotti syndrome
MONDO:0008294 OMIM:176000 Orphanet:79276 acute intermittent porphyria
MONDO:0013531 OMIM:614023 Orphanet:79350 PSPH deficiency
MONDO:0032884 OMIM:618727 - ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
MONDO:0030917 OMIM:617788 - intellectual disability, autosomal dominant 51
MONDO:0007156 OMIM:108100 - arthritis, sacroiliac
MONDO:0017999 - Orphanet:329308 fatty acid hydroxylase-associated neurodegeneration
MONDO:0008327 OMIM:177650 Orphanet:529819 exfoliation syndrome
MONDO:0013412 OMIM:613765 - hypertrophic cardiomyopathy 9
MONDO:0010432 OMIM:300807 - thrombophilia, X-linked, due to factor 9 defect
MONDO:0012676 OMIM:611490 Orphanet:667 autosomal recessive osteopetrosis 4
MONDO:0030852 OMIM:619103 - neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
MONDO:0000455 OMIM:613093 Orphanet:1871 cone dystrophy
MONDO:0033547 OMIM:618974 - Li-Ghorbani-Weisz-Hubshman syndrome
MONDO:0012543 OMIM:610708 Orphanet:98673 optic atrophy 5
MONDO:0014954 OMIM:617174 - Ehlers-Danlos syndrome, periodontal type 2
MONDO:0010632 OMIM:308350 - developmental and epileptic encephalopathy, 1
MONDO:0011816 OMIM:607330 Orphanet:46059 lathosterolosis
MONDO:0007507 OMIM:129200 Orphanet:1658 absence of fingerprints-congenital milia syndrome
MONDO:0011152 OMIM:601815 Orphanet:79351 PHGDH deficiency
MONDO:0009261 OMIM:230600 Orphanet:79256 GM1 gangliosidosis type 2
MONDO:0009015 OMIM:217400 Orphanet:1490 corneal dystrophy-perceptive deafness syndrome
MONDO:0018322 OMIM:300438 Orphanet:391428 HSD10 disease, infantile type
MONDO:0018197 - Orphanet:363534 mitochondrial DNA depletion syndrome, hepatocerebrorenal form
MONDO:0060671 OMIM:617924 - epilepsy, juvenile myoclonic, susceptibility to, 10
MONDO:0017973 - Orphanet:325529 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
MONDO:0009997 - Orphanet:3103 Roberts syndrome
MONDO:0007087 OMIM:104290 Orphanet:2131 alternating hemiplegia of childhood 1
MONDO:0032568 OMIM:618158 - intellectual developmental disorder with macrocephaly, seizures, and speech delay
MONDO:0014197 OMIM:615468 Orphanet:397964 combined immunodeficiency due to MALT1 deficiency
MONDO:0008965 OMIM:214800 Orphanet:138 CHARGE syndrome
MONDO:0011002 OMIM:601152 Orphanet:90120 neuropathy, hereditary motor and sensory, type 6A
MONDO:0014169 OMIM:615402 Orphanet:241 dyschromatosis universalis hereditaria 3
MONDO:0018935 - Orphanet:58017 hairy cell leukemia
MONDO:0005223 - Orphanet:98832 acute myeloid leukemia with minimal differentiation
MONDO:0010555 OMIM:602497 Orphanet:79345 X-linked chondrodysplasia punctata 1
MONDO:0007369 OMIM:121300 Orphanet:79273 hereditary coproporphyria
MONDO:0007522 - Orphanet:90309 Ehlers-Danlos syndrome, classic type
MONDO:0007798 OMIM:146300 Orphanet:436 obsolete adult hypophosphatasia
MONDO:0014307 OMIM:615696 Orphanet:79145 Dowling-Degos disease 4
MONDO:0003795 - Orphanet:370396 ovarian small cell carcinoma
MONDO:0011369 OMIM:603776 - hypercholesterolemia, autosomal dominant, 3
MONDO:0054726 OMIM:617706 - spermatogenic failure 22
MONDO:0008818 OMIM:208050 Orphanet:3342 arterial tortuosity syndrome
MONDO:0013867 OMIM:614707 Orphanet:97229 brown-Vialetto-van Laere syndrome 2
MONDO:0032762 OMIM:618457 - hearing loss, autosomal recessive 115
MONDO:0009025 OMIM:218030 Orphanet:320 apparent mineralocorticoid excess
MONDO:0013595 OMIM:614156 Orphanet:276405 hyperbiliverdinemia
MONDO:0010510 OMIM:300984 - intellectual disability, X-linked 105
MONDO:0023693 - - maple syrup urine disease type 2
MONDO:0007919 OMIM:153100 Orphanet:79452 lymphatic malformation 1
MONDO:0024498 OMIM:137800 Orphanet:182067 glioma susceptibility 1
MONDO:0009124 OMIM:223370 Orphanet:235 Dubowitz syndrome
MONDO:0010008 OMIM:268900 Orphanet:3129 sarcosinemia
MONDO:0020715 OMIM:146500 - multiple system atrophy 1, susceptibility to
MONDO:0015011 OMIM:617302 - optic atrophy 11
MONDO:0014682 OMIM:616535 Orphanet:319487 thyroid cancer, nonmedullary, 5
MONDO:0014596 OMIM:616342 - lissencephaly 7 with cerebellar hypoplasia
MONDO:0030047 OMIM:618891 - microcephaly, developmental delay, and brittle hair syndrome
MONDO:0014995 OMIM:617268 - neurodevelopmental disorder with hypotonia, seizures, and absent language
MONDO:0014137 OMIM:615346 Orphanet:759 precocious puberty, central, 2
MONDO:0012089 OMIM:608649 Orphanet:88621 ichthyosis prematurity syndrome
MONDO:0007621 OMIM:136140 Orphanet:2044 floating-Harbor syndrome
MONDO:0017295 OMIM:307030 Orphanet:284411 glycerol kinase deficiency, juvenile form
MONDO:0023655 OMIM:619281 - immunodeficiency 14b, autosomal recessive
MONDO:0029133 OMIM:618129 - muscular dystrophy, limb-girdle, autosomal dominant 4
MONDO:0014147 OMIM:615362 Orphanet:79262 neuronal ceroid lipofuscinosis 13
MONDO:0008992 OMIM:216100 Orphanet:2319 Juberg-Hayward syndrome
MONDO:0011426 OMIM:604290 Orphanet:48818 aceruloplasminemia
MONDO:0044204 OMIM:260400 Orphanet:811 Shwachman-Diamond syndrome 1
MONDO:0019086 - Orphanet:70482 carcinoma of esophagus
MONDO:0010783 OMIM:502500 - Alzheimer disease, susceptibility to, mitochondrial
MONDO:0014557 OMIM:616267 Orphanet:459033 ataxia - oculomotor apraxia type 4
MONDO:0013166 OMIM:613163 Orphanet:2066 GABA aminotransferase deficiency
MONDO:0007041 OMIM:101200 Orphanet:87 apert syndrome
MONDO:0010152 OMIM:275400 Orphanet:3363 trichomegaly-retina pigmentary degeneration-dwarfism syndrome
MONDO:0013554 OMIM:614070 - psoriasis 13, susceptibility to
MONDO:0015555 - Orphanet:158769 plaque-form urticaria pigmentosa
MONDO:0014553 OMIM:616260 - Tenorio syndrome
MONDO:0013461 OMIM:613850 Orphanet:319684 inosine triphosphatase deficiency
MONDO:0009965 OMIM:267000 Orphanet:2849 Perlman syndrome
MONDO:0017778 OMIM:613943 Orphanet:313 lamellar ichthyosis
MONDO:0014047 OMIM:615108 Orphanet:201 Cowden syndrome 5
MONDO:0007471 OMIM:126700 Orphanet:75376 Doyne honeycomb retinal dystrophy
MONDO:0033014 OMIM:617526 Orphanet:317 erythrokeratodermia variabilis et progressiva 4
MONDO:0024539 OMIM:215500 Orphanet:75377 choroidal dystrophy, central areolar, 1
MONDO:0009398 OMIM:239300 Orphanet:247262 hyperphosphatasia with intellectual disability syndrome 1
MONDO:0014466 OMIM:616038 Orphanet:2671 Neu-Laxova syndrome 2
MONDO:0012880 OMIM:612370 - hypogonadotropic hypogonadism 5 with or without anosmia
MONDO:0013379 OMIM:613706 Orphanet:648 Noonan syndrome 7
MONDO:0019587 OMIM:616969 Orphanet:90635 autosomal dominant nonsyndromic hearing loss
MONDO:0021100 - - breast neoplasm
MONDO:0011450 OMIM:604370 Orphanet:227535 breast-ovarian cancer, familial, susceptibility to, 1
MONDO:0010914 OMIM:600649 Orphanet:228305 carnitine palmitoyl transferase II deficiency, severe infantile form
MONDO:0014975 OMIM:617225 Orphanet:513436 autosomal recessive spastic paraplegia type 78
MONDO:0005486 OMIM:617073 Orphanet:99798 tooth agenesis
MONDO:0005062 OMIM:605027 Orphanet:223735 lymphoma
MONDO:0013766 OMIM:614468 Orphanet:300359 familial cold autoinflammatory syndrome 3
MONDO:0013788 OMIM:614504 Orphanet:886 Usher syndrome type 3B
MONDO:0007872 OMIM:149730 Orphanet:2363 LADD syndrome
MONDO:0009454 OMIM:242860 Orphanet:2268 immunodeficiency-centromeric instability-facial anomalies syndrome 1
MONDO:0034145 OMIM:618440 Orphanet:557003 oculocerebrodental syndrome
MONDO:0012371 OMIM:609942 Orphanet:648 Noonan syndrome 3
MONDO:0002407 - - capillary hemangioma
MONDO:0018141 OMIM:266150 Orphanet:353308 pyruvate carboxylase deficiency, infantile form
MONDO:0010161 OMIM:276700 Orphanet:882 tyrosinemia type I
MONDO:0032772 OMIM:618476 - brain abnormalities, neurodegeneration, and dysosteosclerosis
MONDO:0011640 OMIM:606170 Orphanet:85201 genitopatellar syndrome
MONDO:0011190 OMIM:602088 Orphanet:93591 nephronophthisis 2
MONDO:0007265 OMIM:115150 Orphanet:1340 cardiofaciocutaneous syndrome 1
MONDO:0013249 OMIM:613391 Orphanet:90636 autosomal recessive nonsyndromic hearing loss 84A
MONDO:0032621 OMIM:618238 - mitochondrial complex 1 deficiency, nuclear type 16
MONDO:0100252 OMIM:211900 - tumoral calcinosis, hyperphosphatemic, familial, 1
MONDO:0019004 OMIM:616806 Orphanet:654 kidney Wilms tumor
MONDO:0012892 OMIM:612394 Orphanet:300284 bone fragility with contractures, arterial rupture, and deafness
MONDO:0017366 OMIM:614165 Orphanet:29072 hereditary pheochromocytoma-paraganglioma
MONDO:0009759 OMIM:257300 - mosaic variegated aneuploidy syndrome 1
MONDO:0032839 OMIM:618624 - noonan syndrome 12
MONDO:0019570 OMIM:216400 Orphanet:90324 Cockayne syndrome type 2
MONDO:0013883 OMIM:614750 Orphanet:590 congenital myasthenic syndrome 13
MONDO:0034147 - Orphanet:557064 neonatal epileptic encephalopathy due to glutaminase deficiency
MONDO:0012454 OMIM:610251 - alcohol sensitivity, acute
MONDO:0015716 - Orphanet:169796 moderately severe hemophilia B
MONDO:0021251 - - endometrium neoplasm
MONDO:0013339 OMIM:613642 - dilated cardiomyopathy 1GG
MONDO:0011871 OMIM:607616 Orphanet:99022 Niemann-Pick disease type B
MONDO:0010216 OMIM:278780 Orphanet:910 xeroderma pigmentosum group G
MONDO:0002049 OMIM:612004 Orphanet:852 thrombocytopenia
MONDO:0100082 OMIM:151100 - LEOPARD syndrome 1
MONDO:0011274 OMIM:602849 Orphanet:53271 Muenke syndrome
MONDO:0007288 OMIM:116600 Orphanet:98994 cataract 6 multiple types
MONDO:0018618 - Orphanet:443090 obsolete 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
MONDO:0019118 - Orphanet:71862 inherited retinal dystrophy
MONDO:0009885 OMIM:262890 Orphanet:806 Scott syndrome
MONDO:0008428 OMIM:182230 Orphanet:95494 septooptic dysplasia
MONDO:0012693 OMIM:611556 Orphanet:137625 glycogen storage disease due to muscle and heart glycogen synthase deficiency
MONDO:0007700 OMIM:140350 Orphanet:2118 hawkinsinuria
MONDO:0016089 - Orphanet:206436 infantile Krabbe disease
MONDO:0018002 OMIM:616479 Orphanet:329336 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
MONDO:0008774 OMIM:245130 Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria
MONDO:0002135 - - optic nerve disorder
MONDO:0007885 OMIM:150600 Orphanet:2380 Legg-Calve-Perthes disease
MONDO:0017840 - Orphanet:315311 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
MONDO:0010162 OMIM:276710 Orphanet:69723 tyrosinemia type III
MONDO:0001187 OMIM:109800 Orphanet:157980 urinary bladder cancer
MONDO:0009799 - - obsolete pachydermoperiostosis
MONDO:0017696 OMIM:232500 Orphanet:308638 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
MONDO:0030918 OMIM:617796 - intellectual disability, autosomal dominant 52
MONDO:0014221 OMIM:615512 Orphanet:868 triosephosphate isomerase deficiency
MONDO:0020748 OMIM:618666 - sitosterolemia 2
MONDO:0016305 - Orphanet:216873 atypical pantothenate kinase-associated neurodegeneration
MONDO:0010457 OMIM:300855 Orphanet:276432 Ogden syndrome
MONDO:0013818 OMIM:614602 Orphanet:84064 trichohepatoenteric syndrome 2
MONDO:0013310 OMIM:613571 Orphanet:95699 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
MONDO:0032860 OMIM:618665 - intellectual developmental disorder, autosomal recessive 72
MONDO:0011715 OMIM:606744 Orphanet:808 Seckel syndrome 2
MONDO:0010779 OMIM:500008 Orphanet:90641 mitochondrial non-syndromic sensorineural hearing loss
MONDO:0012504 OMIM:610474 Orphanet:85164 camptodactyly-tall stature-scoliosis-hearing loss syndrome
MONDO:0054731 OMIM:617965 - spermatogenic failure 27
MONDO:0016355 OMIM:610829 Orphanet:220386 semilobar holoprosencephaly
MONDO:0016814 OMIM:256000 Orphanet:255210 maternally-inherited Leigh syndrome
MONDO:0032918 OMIM:618792 - developmental and epileptic encephalopathy, 84
MONDO:0700089 OMIM:611147 Orphanet:98810 paroxysmal nonkinesigenic dyskinesia 1
MONDO:0005072 OMIM:616792 Orphanet:635 neuroblastoma
MONDO:0014450 OMIM:616001 Orphanet:180188 breasts and/or nipples, aplasia or hypoplasia of, 2
MONDO:0008090 OMIM:162800 Orphanet:2686 cyclic hematopoiesis
MONDO:0011913 OMIM:607822 - Alzheimer disease 3
MONDO:0010263 OMIM:300990 Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
MONDO:0014754 OMIM:616733 - primary coenzyme Q10 deficiency 8
MONDO:0032786 OMIM:618499 - Noonan syndrome 11
MONDO:0019414 OMIM:308205 Orphanet:85284 BRESEK syndrome
MONDO:0021040 - - pancreatic neoplasm
MONDO:0013868 OMIM:614714 Orphanet:79152 porokeratosis 7, multiple types
MONDO:0012316 OMIM:609628 Orphanet:77297 Majeed syndrome
MONDO:0030258 OMIM:619301 - pontocerebellar hypoplasia, type 14
MONDO:0009636 OMIM:251880 Orphanet:279934 mitochondrial DNA depletion syndrome 3
MONDO:0008995 OMIM:216340 Orphanet:3472 Yunis-Varon syndrome
MONDO:0018346 - Orphanet:397922 ferro-cerebro-cutaneous syndrome
MONDO:0002009 OMIM:608691 - major depressive disorder
MONDO:0012238 OMIM:609283 Orphanet:254892 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
MONDO:0100165 OMIM:606176 - permanent neonatal diabetes mellitus 1
MONDO:0017244 - Orphanet:280794 pseudoxanthomatous diffuse cutaneous mastocytosis
MONDO:0012465 OMIM:610293 Orphanet:83639 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
MONDO:0018750 - - obsolete class I glucose-6-phosphate dehydrogenase deficiency
MONDO:0017094 - Orphanet:268950 cerebral cortical dysplasia
MONDO:0015008 OMIM:617297 - amelogenesis imperfecta, type 1J
MONDO:0013091 OMIM:613027 - glycogen storage disease IXc
MONDO:0013768 OMIM:614473 Orphanet:51608 arterial calcification, generalized, of infancy, 2
MONDO:0013563 OMIM:614080 Orphanet:280633 multiple congenital anomalies-hypotonia-seizures syndrome 1
MONDO:0008285 OMIM:175510 - polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
MONDO:0019342 OMIM:616777 Orphanet:808 Seckel syndrome
MONDO:0018495 - Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
MONDO:0016557 OMIM:151600 Orphanet:2387 leukonychia totalis
MONDO:0009253 OMIM:229850 Orphanet:2059 Fryns syndrome
MONDO:0012990 OMIM:612712 - Leber congenital amaurosis 13
MONDO:0000819 OMIM:206500 Orphanet:1048 anencephaly
MONDO:0014306 OMIM:615688 Orphanet:404553 vasculitis due to ADA2 deficiency
MONDO:0013968 OMIM:614921 Orphanet:319646 PGM1-CDG
MONDO:0013822 OMIM:614613 Orphanet:950 acrodysostosis 2 with or without hormone resistance
MONDO:0012728 OMIM:611777 Orphanet:130 Brugada syndrome 2
MONDO:0023122 OMIM:601518 Orphanet:1331 familial prostate carcinoma
MONDO:0018810 - Orphanet:480528 lethal hydranencephaly-diaphragmatic hernia syndrome
MONDO:0014206 OMIM:615486 Orphanet:440427 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
MONDO:0020320 - Orphanet:98834 acute myeloblastic leukemia with maturation
MONDO:0017566 - Orphanet:295243 macrodactyly of toes, unilateral
MONDO:0015168 - Orphanet:1037 arthrogryposis multiplex congenita
MONDO:0017726 - Orphanet:309192 Tay-Sachs disease, b variant, adult form
MONDO:0014922 OMIM:617114 - myofibrillar myopathy 7
MONDO:0009185 OMIM:226750 Orphanet:1946 amelocerebrohypohidrotic syndrome
MONDO:0012753 OMIM:611895 Orphanet:803 amyotrophic lateral sclerosis type 9
MONDO:0009053 OMIM:219150 Orphanet:35664 ALDH18A1-related de Barsy syndrome
MONDO:0017701 OMIM:232500 Orphanet:308712 glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
MONDO:0031006 OMIM:619259 - neurodegeneration with ataxia and late-onset optic atrophy
MONDO:0012071 OMIM:608594 Orphanet:528 congenital generalized lipodystrophy type 1
MONDO:0009824 OMIM:260000 Orphanet:93599 primary hyperoxaluria type 2
MONDO:0032647 OMIM:618272 - global developmental delay, lung cysts, overgrowth, and wilms tumor
MONDO:0008791 OMIM:206500 Orphanet:1048 isolated anencephaly/exencephaly
MONDO:0006547 - - exanthem
MONDO:0012183 OMIM:609048 Orphanet:618 melanoma, cutaneous malignant, susceptibility to, 3
MONDO:0044324 OMIM:617694 - Al Kaissi syndrome
MONDO:0024546 OMIM:259100 Orphanet:2796 hypertrophic osteoarthropathy, primary, autosomal recessive, 1
MONDO:0008974 OMIM:215140 Orphanet:1426 Greenberg dysplasia
MONDO:0013987 OMIM:614947 Orphanet:319524 combined oxidative phosphorylation defect type 15
MONDO:0012656 OMIM:614915 Orphanet:137783 lethal congenital contracture syndrome 3
MONDO:0026768 OMIM:301052 - warfarin sensitivity, X-linked
MONDO:0004994 - Orphanet:167848 cardiomyopathy
MONDO:0016090 - Orphanet:206443 late-infantile/juvenile Krabbe disease
MONDO:0017389 - Orphanet:293284 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
MONDO:0100354 OMIM:249210 Orphanet:2604 megacystis-microcolon-intestinal hypoperistalsis syndrome 1
MONDO:0016431 OMIM:606482 Orphanet:228179 autosomal dominant Charcot-Marie-Tooth disease type 2M
MONDO:0011792 OMIM:607200 Orphanet:95716 thyroid dyshormonogenesis 6
MONDO:0020630 OMIM:617711 - epileptic encephalopathy, infantile or early childhood, 1
MONDO:0015253 OMIM:615909 Orphanet:124 Diamond-Blackfan anemia
MONDO:0008178 OMIM:167320 Orphanet:52430 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
MONDO:0018733 - Orphanet:464311 intellectual disability syndrome due to a DYRK1A point mutation
MONDO:0010088 OMIM:272200 Orphanet:585 mucosulfatidosis
MONDO:0018872 - Orphanet:518 acute megakaryoblastic leukemia
MONDO:0013322 OMIM:613608 Orphanet:86814 epilepsy, familial adult myoclonic, 3
MONDO:0009658 OMIM:252940 Orphanet:79272 Sanfilippo syndrome type D
MONDO:0009022 OMIM:217990 - corpus callosum, agenesis of
MONDO:0010621 OMIM:308050 Orphanet:139 CHILD syndrome
MONDO:0016366 OMIM:261600 Orphanet:2209 maternal phenylketonuria
MONDO:0016607 OMIM:146300 Orphanet:247685 odontohypophosphatasia
MONDO:0010420 OMIM:300752 Orphanet:79278 X-linked erythropoietic protoporphyria
MONDO:0014048 OMIM:615109 Orphanet:201 Cowden syndrome 6
MONDO:0009862 OMIM:261630 Orphanet:238583 dihydropteridine reductase deficiency
MONDO:0009863 OMIM:261640 Orphanet:238583 BH4-deficient hyperphenylalaninemia A
MONDO:0015018 OMIM:617320 - ichthyosis, congenital, autosomal recessive 12
MONDO:0009649 OMIM:252350 Orphanet:2573 moyamoya disease 1
MONDO:0014305 OMIM:615686 Orphanet:401805 hereditary spastic paraplegia 63
MONDO:0018577 - Orphanet:436274 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
MONDO:0014973 OMIM:617222 - sudden cardiac failure, infantile
MONDO:0014391 OMIM:615897 Orphanet:420573 severe combined immunodeficiency due to CTPS1 deficiency
MONDO:0013971 OMIM:614924 Orphanet:314051 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
MONDO:0014275 OMIM:615605 Orphanet:3337 Fanconi renotubular syndrome 3
MONDO:0007959 OMIM:155255 Orphanet:616 medulloblastoma
MONDO:0013756 OMIM:614441 Orphanet:2796 hypertrophic osteoarthropathy, primary, autosomal recessive, 2
MONDO:0014162 OMIM:615395 Orphanet:352563 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
MONDO:0011603 OMIM:617158 Orphanet:602 GNE myopathy
MONDO:0017730 - Orphanet:309271 metachromatic leukodystrophy, adult form
MONDO:0008726 OMIM:201750 Orphanet:63269 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
MONDO:0009676 OMIM:253601 Orphanet:268 autosomal recessive limb-girdle muscular dystrophy type 2B
MONDO:0100095 OMIM:618170 - neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
MONDO:0009383 OMIM:237900 Orphanet:2312 transient familial neonatal hyperbilirubinemia
MONDO:0030059 OMIM:618916 - developmental and epileptic encephalopathy, 87
MONDO:0014290 OMIM:615643 Orphanet:397725 neurodegeneration with brain iron accumulation 6
MONDO:0018989 - Orphanet:64740 recurrent acute pancreatitis
MONDO:0018653 OMIM:615083 Orphanet:447877 Polymerase proofreading-related adenomatous polyposis
MONDO:0014566 OMIM:616280 Orphanet:397735 Charcot-Marie-Tooth disease axonal type 2U
MONDO:0011860 OMIM:607572 Orphanet:548 leprosy, susceptibility to, 2
MONDO:0017403 OMIM:610193 Orphanet:293910 familial isolated arrhythmogenic ventricular dysplasia, right dominant form
MONDO:0015052 - Orphanet:100049 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
MONDO:0012986 OMIM:612691 Orphanet:268940 bilateral parasagittal parieto-occipital polymicrogyria
MONDO:0000483 - - oculogyric crisis
MONDO:0017173 OMIM:614822 Orphanet:276234 non-syndromic male infertility due to sperm motility disorder
MONDO:0009265 OMIM:230800 Orphanet:77259 Gaucher disease type I
MONDO:0009070 OMIM:220120 Orphanet:941 D-glyceric aciduria
MONDO:0013561 OMIM:614078 Orphanet:280586 chondrodysplasia with joint dislocations, gPAPP type
MONDO:0014563 OMIM:616277 Orphanet:506 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
MONDO:0012423 OMIM:610156 Orphanet:75858 MORM syndrome
MONDO:0004183 - - axonal neuropathy
MONDO:0017052 OMIM:615135 Orphanet:268162 intermediate maple syrup urine disease
MONDO:0014881 OMIM:617044 Orphanet:488618 transketolase deficiency
MONDO:0014101 OMIM:615249 Orphanet:899 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
MONDO:0010256 OMIM:300143 - intellectual disability, X-linked 21
MONDO:0007793 OMIM:146000 Orphanet:429 hypochondroplasia
MONDO:0014662 OMIM:616488 Orphanet:478664 congenital insensitivity to pain-hypohidrosis syndrome
MONDO:0013307 OMIM:613561 Orphanet:2598 myopathy, lactic acidosis, and sideroblastic anemia 2
MONDO:0020785 OMIM:618196 - capillary malformation-arteriovenous malformation 2
MONDO:0008717 OMIM:201250 Orphanet:968 acromesomelic dysplasia 2C, Hunter-Thompson type
MONDO:0018323 OMIM:300438 Orphanet:391457 HSD10 disease, neonatal type
MONDO:0011953 OMIM:608033 Orphanet:88619 familial acute necrotizing encephalopathy
MONDO:0024525 OMIM:134600 Orphanet:3337 Fanconi renotubular syndrome 1
MONDO:0060455 OMIM:301015 - X-linked congenital hemolytic anemia
MONDO:0013242 OMIM:613375 Orphanet:552 maturity-onset diabetes of the young type 11
MONDO:0014457 OMIM:616025 Orphanet:247262 hyperphosphatasia with intellectual disability syndrome 5
MONDO:0005233 OMIM:211980 Orphanet:488201 non-small cell lung carcinoma
MONDO:0009610 OMIM:250950 Orphanet:67046 3-methylglutaconic aciduria type 1
MONDO:0013743 OMIM:614420 Orphanet:300345 autosomal systemic lupus erythematosus type 16
MONDO:0030073 OMIM:618960 - Mitchell syndrome
MONDO:0013000 OMIM:612740 Orphanet:100924 porphyria due to ALA dehydratase deficiency
MONDO:0060555 OMIM:617661 - vertebral, cardiac, renal, and limb defects syndrome 2
MONDO:0008310 OMIM:176670 Orphanet:740 Hutchinson-Gilford progeria syndrome
MONDO:0020788 OMIM:618314 - hypomagnesemia, seizures, and intellectual disability 2
MONDO:0012831 OMIM:612244 - inflammatory bowel disease 13
MONDO:0007272 OMIM:277350 Orphanet:199285 hereditary hypercarotenemia and vitamin A deficiency
MONDO:0010799 OMIM:580000 Orphanet:168609 deafness, aminoglycoside-induced
MONDO:0013685 OMIM:614320 Orphanet:1333 pancreatic cancer, susceptibility to, 4
MONDO:0011402 OMIM:604168 Orphanet:48431 congenital cataracts-facial dysmorphism-neuropathy syndrome
MONDO:0012132 OMIM:608812 - colorectal cancer, susceptibility to, 1
MONDO:0014142 OMIM:615352 Orphanet:363623 autosomal recessive limb-girdle muscular dystrophy type 2T
MONDO:0032733 OMIM:618412 - global developmental delay, progressive ataxia, and elevated glutamine
MONDO:0012866 OMIM:612319 Orphanet:171629 hereditary spastic paraplegia 35
MONDO:0019828 - Orphanet:95496 pituitary stalk interruption syndrome
MONDO:0021022 OMIM:614619 Orphanet:3197 hereditary hyperekplexia
MONDO:0100218 OMIM:618947 - arthrogryposis multiplex congenita 5
MONDO:0032792 OMIM:618511 - neuropathy, hereditary motor and sensory, type VIc, with optic atrophy
MONDO:0018995 - Orphanet:64749 Charcot-Marie-Tooth disease type 4
MONDO:0017893 OMIM:601626 Orphanet:319465 inherited acute myeloid leukemia
MONDO:0011629 OMIM:606056 Orphanet:79330 MOGS-CDG
MONDO:0032612 OMIM:618229 - mitochondrial complex 1 deficiency, nuclear type 7
MONDO:0013533 OMIM:614025 Orphanet:140905 hyperlipidemia due to hepatic triglyceride lipase deficiency
MONDO:0014543 OMIM:616228 Orphanet:590 congenital myasthenic syndrome 14
MONDO:0024557 OMIM:604391 Orphanet:251347 ataxia-telangiectasia-like disorder 1
MONDO:0013493 OMIM:613933 - acetyl-coa carboxylase deficiency
MONDO:0017575 OMIM:613662 Orphanet:298 mitochondrial neurogastrointestinal encephalomyopathy
MONDO:0020777 OMIM:618324 - congenital disorder of glycosylation with defective fucosylation 2
MONDO:0015466 OMIM:259100 Orphanet:1525 cranio-osteoarthropathy
MONDO:0008641 OMIM:192315 Orphanet:247691 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
MONDO:0014375 OMIM:615863 Orphanet:329242 congenital diarrhea 7 with exudative enteropathy
MONDO:0014551 OMIM:616255 - short stature with nonspecific skeletal abnormalities
MONDO:0060532 OMIM:617602 - congenital heart defects and skeletal malformations syndrome
MONDO:0010077 OMIM:271665 Orphanet:93358 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
MONDO:0008546 OMIM:187600 Orphanet:2655 thanatophoric dysplasia type 1
MONDO:0009785 OMIM:258480 Orphanet:2746 opsismodysplasia
MONDO:0010023 OMIM:269840 Orphanet:911 combined immunodeficiency due to ZAP70 deficiency
MONDO:0018333 - Orphanet:394532 multiple acyl-CoA dehydrogenase deficiency, mild type
MONDO:0020434 - Orphanet:99103 atrial septal defect, ostium secundum type
MONDO:0033362 OMIM:617389 Orphanet:1934 developmental and epileptic encephalopathy, 53
MONDO:0009231 OMIM:609441 Orphanet:2639 acromesomelic dysplasia 2B
MONDO:0033367 OMIM:617830 - developmental and epileptic encephalopathy, 58
MONDO:0012477 OMIM:610359 - retinitis pigmentosa 33
MONDO:0000141 OMIM:614114 Orphanet:1052 mosaic variegated aneuploidy syndrome
MONDO:0011393 OMIM:604091 - hypoalphalipoproteinemia, primary, 1
MONDO:0012833 OMIM:612247 Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome
MONDO:0034092 - Orphanet:543470 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
MONDO:0008005 OMIM:157800 Orphanet:3238 cardiospondylocarpofacial syndrome
MONDO:0013925 OMIM:614857 Orphanet:369955 methylmalonic acidemia with homocystinuria, type cblJ
MONDO:0005138 OMIM:211980 - lung carcinoma
MONDO:0019635 OMIM:200400 Orphanet:930 idiopathic achalasia
MONDO:0001567 - - nephrocalcinosis
MONDO:0014439 OMIM:615988 - Bardet-Biedl syndrome 11
MONDO:0009667 OMIM:253280 Orphanet:899 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
MONDO:0011658 OMIM:606324 Orphanet:2828 autosomal recessive early-onset Parkinson disease 7
MONDO:0010810 OMIM:600081 Orphanet:289157 vitamin D hydroxylation-deficient rickets, type 1B
MONDO:0012136 OMIM:608836 Orphanet:228308 carnitine palmitoyl transferase II deficiency, neonatal form
MONDO:0024309 OMIM:201300 Orphanet:970 neuropathy, hereditary sensory and autonomic, type 2A
MONDO:0020628 OMIM:618097 Orphanet:508512 microcephaly, growth restriction, and increased sister chromatid exchange 2
MONDO:0013361 OMIM:613679 Orphanet:325 congenital prothrombin deficiency
MONDO:0012368 OMIM:609924 Orphanet:137754 aminoacylase 1 deficiency
MONDO:0016982 - Orphanet:263413 angiosarcoma
MONDO:0014359 OMIM:615830 - pigmented nodular adrenocortical disease, primary, 4
MONDO:0100220 OMIM:619013 - Rajab interstitial lung disease with brain calcifications 2
MONDO:0019448 OMIM:615400 Orphanet:86814 benign adult familial myoclonic epilepsy
MONDO:0021105 OMIM:613282 - NAFLD1
MONDO:0012407 OMIM:610090 Orphanet:79096 pyridoxal phosphate-responsive seizures
MONDO:0017830 - Orphanet:314911 severe Canavan disease
MONDO:0018144 OMIM:616228 Orphanet:353327 congenital myasthenic syndromes with glycosylation defect
MONDO:0013158 OMIM:613154 Orphanet:899 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
MONDO:0011150 OMIM:601812 Orphanet:363665 acroosteolysis-keloid-like lesions-premature aging syndrome
MONDO:0009916 OMIM:264300 Orphanet:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
MONDO:0019046 - Orphanet:68356 leukodystrophy
MONDO:0035363 - - obsolete IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
MONDO:0010221 OMIM:280000 Orphanet:3474 CHIME syndrome
MONDO:0008603 OMIM:190440 Orphanet:3366 trigonocephaly 1
MONDO:0010592 OMIM:305600 Orphanet:2092 focal dermal hypoplasia
MONDO:0010487 OMIM:300919 - intellectual disability, X-linked 99
MONDO:0009529 OMIM:246900 Orphanet:765 pyruvate dehydrogenase E3 deficiency
MONDO:0013469 OMIM:613862 - retinitis pigmentosa 38
MONDO:0018931 OMIM:252605 Orphanet:577 mucolipidosis type III
MONDO:0010584 OMIM:305000 Orphanet:3322 dyskeratosis congenita, X-linked
MONDO:0012500 OMIM:610448 Orphanet:90280 chilblain lupus 1
MONDO:0009856 OMIM:261540 Orphanet:709 Peters plus syndrome
MONDO:0018114 OMIM:616602 Orphanet:35099 isolated brachycephaly
MONDO:0008940 OMIM:213002 Orphanet:85186 endosteal sclerosis-cerebellar hypoplasia syndrome
MONDO:0054862 OMIM:618096 - premature ovarian failure 15
MONDO:0013125 OMIM:613089 Orphanet:168984 CLAPO syndrome
MONDO:0013588 OMIM:614129 Orphanet:2855 Perrault syndrome 3
MONDO:0018770 OMIM:617088 Orphanet:474 Jeune syndrome
MONDO:0012012 OMIM:608323 Orphanet:100045 Charcot-Marie-Tooth disease dominant intermediate C
MONDO:0032613 OMIM:618230 - mitochondrial complex 1 deficiency, nuclear type 8
MONDO:0009662 OMIM:253220 Orphanet:584 mucopolysaccharidosis type 7
MONDO:0014704 OMIM:616592 Orphanet:477831 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
MONDO:0009910 OMIM:264090 Orphanet:3455 Wiedemann-Rautenstrauch syndrome
MONDO:0007412 OMIM:123790 Orphanet:1555 Beare-Stevenson cutis gyrata syndrome
MONDO:0009123 OMIM:223360 Orphanet:230 dopamine beta-hydroxylase deficiency
MONDO:0010497 OMIM:300958 - intellectual disability, X-linked 102
MONDO:0008315 OMIM:614731 - prostate cancer
MONDO:0008293 OMIM:175900 Orphanet:79152 porokeratosis 3, disseminated superficial actinic type
MONDO:0013765 OMIM:614466 - coronary heart disease, susceptibility to, 6
MONDO:0010167 OMIM:276880 Orphanet:210128 urocanic aciduria
MONDO:0017695 OMIM:232500 Orphanet:308621 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
MONDO:0001056 OMIM:613659 Orphanet:63443 gastric cancer
MONDO:0013129 OMIM:613093 Orphanet:49382 cone dystrophy 4
MONDO:0054833 OMIM:618036 Orphanet:521414 charcot-marie-tooth disease, axonal, type 2DD
MONDO:0007749 - - obsolete autosomal recessive infantile hypercalcemia
MONDO:0013836 OMIM:614650 Orphanet:280406 familial steroid-resistant nephrotic syndrome with sensorineural deafness
MONDO:0033968 - Orphanet:529977 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
MONDO:0013986 OMIM:614946 Orphanet:319519 combined oxidative phosphorylation defect type 14
MONDO:0014892 OMIM:617061 Orphanet:476126 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
MONDO:0014057 OMIM:615135 Orphanet:511 maple syrup urine disease, mild variant
MONDO:0007342 OMIM:119800 Orphanet:293150 clubfoot
MONDO:0015717 - Orphanet:169799 mild hemophilia B
MONDO:0008862 OMIM:210210 Orphanet:6 3-methylcrotonyl-CoA carboxylase 2 deficiency
MONDO:0032820 OMIM:618577 - neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
MONDO:0033532 OMIM:618950 - Suleiman-El-Hattab syndrome
MONDO:0007299 OMIM:117550 Orphanet:821 Sotos syndrome 1
MONDO:0011540 OMIM:605361 Orphanet:98763 spinocerebellar ataxia type 14
MONDO:0012466 OMIM:610297 Orphanet:2828 Parkinson disease 13, autosomal dominant, susceptibility to
MONDO:0010637 OMIM:308800 Orphanet:2340 keratosis follicularis spinulosa decalvans, X-linked
MONDO:0013549 OMIM:614063 - N-acetylaspartate deficiency
MONDO:0021571 OMIM:126200 - multiple sclerosis, susceptibility to 1
MONDO:0032807 OMIM:618547 - neurodevelopmental disorder with visual defects and brain anomalies
MONDO:0009865 OMIM:261670 Orphanet:97234 glycogen storage disease due to phosphoglycerate mutase deficiency
MONDO:0009300 OMIM:233400 Orphanet:2855 Perrault syndrome 1
MONDO:0032673 OMIM:618317 - basal ganglia calcification, idiopathic, 7, autosomal recessive
MONDO:0011758 OMIM:607014 Orphanet:93473 Hurler syndrome
MONDO:0009161 OMIM:225410 Orphanet:1901 Ehlers-Danlos syndrome, dermatosparaxis type
MONDO:0030913 OMIM:617751 Orphanet:500159 intellectual disability, autosomal dominant 48
MONDO:0013159 OMIM:613155 Orphanet:370968 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
MONDO:0018765 - Orphanet:468635 cryptogenic multifocal ulcerous stenosing enteritis
MONDO:0008170 OMIM:607893 Orphanet:213500 ovarian cancer
MONDO:0013489 OMIM:613916 Orphanet:90636 autosomal recessive nonsyndromic hearing loss 89
MONDO:0007924 OMIM:153480 Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome
MONDO:0009947 OMIM:266130 Orphanet:32 glutathione synthetase deficiency with 5-oxoprolinuria
MONDO:0014882 OMIM:617046 Orphanet:466722 hereditary spastic paraplegia 77
MONDO:0009458 OMIM:242900 Orphanet:1830 Schimke immuno-osseous dysplasia
MONDO:0017729 - Orphanet:309256 metachromatic leukodystrophy, late infantile form
MONDO:0060568 OMIM:617682 Orphanet:529965 Pilarowski-Bjornsson syndrome
MONDO:0014255 OMIM:615561 - complement factor b deficiency
MONDO:0010644 OMIM:308990 Orphanet:93622 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
MONDO:0007781 OMIM:145500 - essential hypertension, genetic
MONDO:0014011 OMIM:615024 Orphanet:79394 autosomal recessive congenital ichthyosis 10
MONDO:0015015 OMIM:617308 - congenital bile acid synthesis defect 6
MONDO:0014904 OMIM:617082 - congenital disorder of glycosylation, type IAA
MONDO:0015356 - Orphanet:140162 hereditary neoplastic syndrome
MONDO:0014224 OMIM:615516 Orphanet:329195 developmental delay with autism spectrum disorder and gait instability
MONDO:0008757 OMIM:610753 Orphanet:701 alopecia universalis congenita
MONDO:0014719 OMIM:616647 Orphanet:457375 developmental and epileptic encephalopathy, 35
MONDO:0008918 OMIM:212138 Orphanet:159 carnitine-acylcarnitine translocase deficiency
MONDO:0014767 OMIM:616777 - Seckel syndrome 9
MONDO:0004976 - Orphanet:803 amyotrophic lateral sclerosis
MONDO:0017839 - Orphanet:315306 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
MONDO:0019087 OMIM:615619 Orphanet:70567 cholangiocarcinoma
MONDO:0013767 OMIM:614470 Orphanet:268114 autoimmune lymphoproliferative syndrome type 4
MONDO:0032795 OMIM:618522 - intellectual developmental disorder 59
MONDO:0018332 - Orphanet:394529 multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
MONDO:0007648 OMIM:137215 Orphanet:26106 hereditary diffuse gastric adenocarcinoma
MONDO:0030921 OMIM:617831 - intellectual disability, autosomal dominant 55, with seizures
MONDO:0013380 OMIM:613707 Orphanet:500 LEOPARD syndrome 3
MONDO:0008048 OMIM:614408 Orphanet:169189 autosomal dominant centronuclear myopathy
MONDO:0014511 OMIM:616155 Orphanet:443073 Charcot-Marie-Tooth disease axonal type 2S
MONDO:0010683 OMIM:310400 Orphanet:596 X-linked centronuclear myopathy
MONDO:0014636 OMIM:616430 Orphanet:447954 combined oxidative phosphorylation defect type 25
MONDO:0009612 OMIM:251000 Orphanet:79312 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
MONDO:0012481 OMIM:610377 Orphanet:29 mevalonic aciduria
MONDO:0060596 OMIM:617755 Orphanet:528084 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
MONDO:0007765 OMIM:144755 Orphanet:443098 hyperostosis cranialis interna
MONDO:0022113 OMIM:618352 - central centrifugal cicatricial alopecia
MONDO:0010379 OMIM:300615 Orphanet:3057 Brunner syndrome
MONDO:0020684 OMIM:130080 - Ehlers-Danlos syndrome, periodontal type 1
MONDO:0007042 OMIM:101400 Orphanet:794 Saethre-Chotzen syndrome
MONDO:0017809 OMIM:606693 Orphanet:314632 parkinsonism due to ATP13A2 deficiency
MONDO:0034104 - Orphanet:544488 global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
MONDO:0008815 OMIM:207900 Orphanet:23 argininosuccinic aciduria
MONDO:0009849 OMIM:260920 Orphanet:343 hyperimmunoglobulinemia D with periodic fever
MONDO:0014085 OMIM:615219 Orphanet:2185 hydrocephalus, nonsyndromic, autosomal recessive 2
MONDO:0012526 OMIM:610618 Orphanet:91378 hereditary angioedema type 3
MONDO:0017564 - Orphanet:295239 macrodactyly of fingers, unilateral
MONDO:0008093 OMIM:162900 Orphanet:79414 nevus, epidermal
MONDO:0017950 - Orphanet:324761 microcephalic primordial dwarfism
MONDO:0014736 OMIM:616688 Orphanet:466768 Charcot-Marie-Tooth disease axonal type 2Z
MONDO:0012984 OMIM:612674 Orphanet:171848 PHARC syndrome
MONDO:0005144 OMIM:616437 - familial amyotrophic lateral sclerosis
MONDO:0013944 OMIM:614878 Orphanet:324530 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
MONDO:0013224 OMIM:613325 Orphanet:69077 rhabdoid tumor predisposition syndrome 2
MONDO:0004989 - - breast carcinoma
MONDO:0013161 OMIM:613157 Orphanet:206564 autosomal recessive limb-girdle muscular dystrophy type 2O
MONDO:0018419 - Orphanet:401820 autosomal recessive spastic paraplegia type 67
MONDO:0032862 OMIM:618667 - hydrocephalus, congenital communicating, 1
MONDO:0014500 OMIM:616117 Orphanet:436242 atrial conduction disease
MONDO:0014850 OMIM:616959 - retinitis pigmentosa and erythrocytic microcytosis
MONDO:0010479 OMIM:300905 Orphanet:352675 Charcot-Marie-Tooth disease X-linked dominant 6
MONDO:0020729 OMIM:601495 Orphanet:33110 autosomal recessive agammaglobulinemia 1
MONDO:0012123 OMIM:608799 Orphanet:79322 congenital disorder of glycosylation type 1E
MONDO:0034186 - Orphanet:562538 autosomal recessive extra-oral halitosis
MONDO:0009267 OMIM:231000 Orphanet:77261 Gaucher disease type III
MONDO:0014576 OMIM:616299 Orphanet:401862 lipoyl transferase 1 deficiency
MONDO:0020682 OMIM:130070 - Ehlers-Danlos syndrome, spondylodysplastic type, 1
MONDO:0014489 OMIM:616094 Orphanet:445110 limb-girdle muscular dystrophy due to POMK deficiency
MONDO:0009520 OMIM:246450 Orphanet:20 3-hydroxy-3-methylglutaric aciduria
MONDO:0008436 OMIM:182410 Orphanet:820 Sneddon syndrome
MONDO:0002629 OMIM:259500 Orphanet:668 bone osteosarcoma
MONDO:0012204 OMIM:609153 Orphanet:90044 familial pseudohyperkalemia
MONDO:0007963 OMIM:155600 Orphanet:618 melanoma, cutaneous malignant, susceptibility to, 1
MONDO:0044903 - - myelofibrosis
MONDO:0032873 OMIM:618697 - retinitis pigmentosa 87 with choroidal involvement
MONDO:0013808 OMIM:614569 Orphanet:163634 Maffucci syndrome
MONDO:0008664 - - obsolete autosomal dominant neovascular inflammatory vitreoretinopathy
MONDO:0012556 OMIM:610768 Orphanet:91131 DK1-CDG
MONDO:0019682 - Orphanet:93400 congenital sialidosis type 2
MONDO:0013171 OMIM:613179 Orphanet:760 purine nucleoside phosphorylase deficiency
MONDO:0014209 OMIM:615491 Orphanet:352654 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
MONDO:0007068 OMIM:103050 Orphanet:46 adenylosuccinate lyase deficiency
MONDO:0011945 OMIM:608013 Orphanet:85212 Gaucher disease perinatal lethal
MONDO:0009281 OMIM:231670 Orphanet:25 glutaryl-CoA dehydrogenase deficiency
MONDO:0008267 OMIM:174300 Orphanet:2919 orofaciodigital syndrome V
MONDO:0014935 OMIM:617137 - frontometaphyseal dysplasia 2
MONDO:0010461 OMIM:300860 Orphanet:163956 syndromic X-linked intellectual disability Nascimento type
MONDO:0017401 OMIM:610193 Orphanet:293888 familial isolated arrhythmogenic ventricular dysplasia, left dominant form
MONDO:0019258 - Orphanet:79253 mild phenylketonuria
MONDO:0012419 OMIM:610149 - age related macular degeneration 7
MONDO:0014555 OMIM:616265 Orphanet:263548 peeling skin syndrome type A
MONDO:0008817 OMIM:208000 Orphanet:51608 arterial calcification, generalized, of infancy, 1
MONDO:0030074 OMIM:618961 - spondylometaphyseal dysplasia with corneal dystrophy
MONDO:0007979 OMIM:156250 Orphanet:2499 metachondromatosis
MONDO:0007958 OMIM:155240 Orphanet:99361 familial medullary thyroid carcinoma
MONDO:0032775 OMIM:618480 - neurodevelopmental disorder with seizures and speech and walking impairment
MONDO:0007803 - Orphanet:102 multiple system atrophy
MONDO:0009352 OMIM:236200 Orphanet:394 classic homocystinuria
MONDO:0014407 OMIM:615937 Orphanet:83473 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
MONDO:0013439 OMIM:613812 Orphanet:79302 congenital bile acid synthesis defect 3
MONDO:0010133 OMIM:274500 Orphanet:95716 thyroid dyshormonogenesis 2A
MONDO:0009821 OMIM:259775 Orphanet:1832 lethal osteosclerotic bone dysplasia
MONDO:0012282 OMIM:609465 Orphanet:2725 Al-Gazali syndrome
MONDO:0010392 OMIM:300653 Orphanet:713 glycogen storage disease due to phosphoglycerate kinase 1 deficiency
MONDO:0010427 OMIM:300799 - syndromic X-linked intellectual disability Raymond type
MONDO:0012679 OMIM:611497 Orphanet:210110 autosomal recessive osteopetrosis 6
MONDO:0044299 OMIM:616224 Orphanet:590 myasthenic syndrome, congenital, 22
MONDO:0012980 OMIM:612651 Orphanet:199332 endocrine-cerebro-osteodysplasia syndrome
MONDO:0015557 - Orphanet:158775 Smouldering systemic mastocytosis
MONDO:0018348 - - obsolete polyglucosan body myopathy type 1
MONDO:0013404 OMIM:613752 Orphanet:88618 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
MONDO:0033566 OMIM:619012 - combined oxidative phosphorylation deficiency 48
MONDO:0007064 OMIM:102700 Orphanet:277 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
MONDO:0032829 OMIM:618603 - neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
MONDO:0019002 OMIM:158350 Orphanet:65285 Lhermitte-Duclos disease
MONDO:0009945 OMIM:617290 Orphanet:3006 pyridoxine-dependent epilepsy
MONDO:0032923 OMIM:618800 - spinocerebellar ataxia, autosomal recessive 28
MONDO:0006486 OMIM:606661 Orphanet:39044 uveal melanoma
MONDO:0013800 OMIM:614557 Orphanet:300179 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
MONDO:0012747 OMIM:611881 Orphanet:57 glycogen storage disease due to aldolase A deficiency
MONDO:0008830 OMIM:208400 Orphanet:93 aspartylglucosaminuria
MONDO:0013946 OMIM:614880 Orphanet:478 hypogonadotropic hypogonadism 15 with or without anosmia
MONDO:0013997 OMIM:614974 Orphanet:398189 focal facial dermal dysplasia type IV
MONDO:0013859 OMIM:614691 Orphanet:91492 cataract 38
MONDO:0014310 OMIM:615704 Orphanet:221043 hereditary sclerosing poikiloderma with tendon and pulmonary involvement
MONDO:0011230 OMIM:602475 - ossification of the posterior longitudinal ligament of the spine
MONDO:0017385 OMIM:616645 Orphanet:293181 malignant migrating partial seizures of infancy
MONDO:0012444 OMIM:610217 Orphanet:35069 neurodegeneration with brain iron accumulation 2B
MONDO:0018610 - Orphanet:441447 early-onset posterior subcapsular cataract
MONDO:0017337 - Orphanet:289548 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
MONDO:0014886 OMIM:617051 Orphanet:488627 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
MONDO:0008722 OMIM:201470 Orphanet:26792 short chain acyl-CoA dehydrogenase deficiency
MONDO:0009891 OMIM:263300 Orphanet:729 acquired polycythemia vera
MONDO:0007402 OMIM:123320 - creatine phosphokinase, elevated serum
MONDO:0018155 OMIM:611637 Orphanet:35689 lateral sclerosis
MONDO:0014824 OMIM:616901 Orphanet:459061 craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
MONDO:0011801 OMIM:607250 Orphanet:94124 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
MONDO:0010463 OMIM:300863 Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type
MONDO:0014919 OMIM:617108 - sessile serrated polyposis cancer syndrome
MONDO:0010447 OMIM:300844 Orphanet:777 intellectual disability, X-linked 19
MONDO:0032880 OMIM:618721 - developmental and epileptic encephalopathy, 82
MONDO:0020851 OMIM:618110 - spermatogenic failure 30
MONDO:0018006 - Orphanet:329478 adult-onset distal myopathy due to VCP mutation
MONDO:0009583 OMIM:249620 Orphanet:2728 blepharophimosis - intellectual disability syndrome, Ohdo type
MONDO:0009692 OMIM:254450 Orphanet:824 primary myelofibrosis
MONDO:0016547 OMIM:130650 Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation
MONDO:0030009 OMIM:618840 - alopecia-intellectual disability syndrome 4
MONDO:0019625 OMIM:617168 Orphanet:91387 familial thoracic aortic aneurysm and aortic dissection
MONDO:0009255 OMIM:230200 Orphanet:79237 galactokinase deficiency
MONDO:0009380 OMIM:237500 Orphanet:234 Dubin-Johnson syndrome
MONDO:0007620 OMIM:136120 Orphanet:79292 fish eye disease
MONDO:0009655 OMIM:252900 Orphanet:79269 Sanfilippo syndrome type A
MONDO:0008021 OMIM:158350 Orphanet:65285 Cowden syndrome 1
MONDO:0007204 OMIM:112240 Orphanet:2050 Cole-Carpenter syndrome 1
MONDO:0016063 OMIM:616858 Orphanet:201 Cowden disease
MONDO:0019200 OMIM:617123 Orphanet:791 retinitis pigmentosa
MONDO:0014398 OMIM:615918 Orphanet:420733 combined oxidative phosphorylation defect type 21
MONDO:0013398 OMIM:613737 - acne inversa, familial, 3
MONDO:0010877 OMIM:600361 Orphanet:64751 Charcot-Marie-Tooth disease type 5
MONDO:0014545 OMIM:616230 Orphanet:424027 progressive myoclonic epilepsy type 8
MONDO:0017243 - Orphanet:280785 bullous diffuse cutaneous mastocytosis
MONDO:0009252 OMIM:229800 Orphanet:2056 essential fructosuria
MONDO:0032899 OMIM:618752 - neutropenia, severe congenital, 8, autosomal dominant
MONDO:0012640 OMIM:611228 Orphanet:139515 Charcot-Marie-Tooth disease type 4J
MONDO:0005375 - - nasopharyngeal neoplasm
MONDO:0032905 OMIM:618768 - spastic paraplegia 81, autosomal recessive
MONDO:0008647 OMIM:192600 - hypertrophic cardiomyopathy 1
MONDO:0009866 OMIM:261680 Orphanet:79316 phosphoenolpyruvate carboxykinase deficiency, cytosolic
MONDO:0009009 OMIM:217090 Orphanet:722 hypoplasminogenemia
MONDO:0003608 - Orphanet:98673 optic atrophy
MONDO:0024519 OMIM:191830 Orphanet:411709 renal hypodysplasia/aplasia 1
MONDO:0010987 OMIM:601072 - autosomal recessive nonsyndromic hearing loss 8
MONDO:0030035 OMIM:618877 - leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
MONDO:0014977 OMIM:617232 Orphanet:480682 autosomal recessive limb-girdle muscular dystrophy type 2Z
MONDO:0011906 OMIM:607765 Orphanet:79301 congenital bile acid synthesis defect 1
MONDO:0008753 OMIM:203500 Orphanet:56 alkaptonuria
MONDO:0020751 OMIM:618182 - orthostatic hypotension 2
MONDO:0024568 OMIM:615438 Orphanet:370088 infantile liver failure syndrome 1
MONDO:0012590 OMIM:610965 - XFE progeroid syndrome
MONDO:0016647 OMIM:614284 Orphanet:250984 autosomal recessive Stickler syndrome
MONDO:0013275 OMIM:613470 Orphanet:712 hemolytic anemia due to glucophosphate isomerase deficiency
MONDO:0020667 OMIM:207410 - Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
MONDO:0011362 OMIM:607569 Orphanet:34521 myopathy, myofibrillar, 9, with early respiratory failure
MONDO:0033007 OMIM:617729 Orphanet:2065 Galloway-Mowat syndrome 3
MONDO:0014104 OMIM:615268 Orphanet:1766 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
MONDO:0008383 OMIM:604302 Orphanet:284130 rheumatoid arthritis
MONDO:0014830 OMIM:616913 Orphanet:466806 platelet-type bleeding disorder 20
MONDO:0014598 OMIM:616346 Orphanet:2382 developmental and epileptic encephalopathy, 31
MONDO:0016589 OMIM:615851 Orphanet:247198 progressive cerebello-cerebral atrophy
MONDO:0000208 OMIM:616033 - microcephaly, short stature, and impaired glucose metabolism 1
MONDO:0009515 OMIM:245900 Orphanet:79293 Norum disease
MONDO:0013308 OMIM:613563 Orphanet:363972 CBL-related disorder
MONDO:0008944 OMIM:213300 Orphanet:475 Joubert syndrome 1
MONDO:0014641 OMIM:616439 Orphanet:275872 frontotemporal dementia and/or amyotrophic lateral sclerosis 4
MONDO:0014234 OMIM:615537 Orphanet:178307 reticulate acropigmentation of Kitamura
MONDO:0060666 OMIM:617915 - hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
MONDO:0003441 - - dystonic disorder
MONDO:0014112 OMIM:615278 Orphanet:1340 cardiofaciocutaneous syndrome 2
MONDO:0019660 - Orphanet:93259 Pfeiffer syndrome type 2
MONDO:0014510 OMIM:616154 Orphanet:438178 fatty acyl-CoA reductase 1 deficiency
MONDO:0014944 OMIM:617157 Orphanet:464288 short stature-brachydactyly-obesity-global developmental delay syndrome
MONDO:0007203 OMIM:112200 Orphanet:1059 blue rubber bleb nevus
MONDO:0018298 OMIM:277950 Orphanet:371428 multicentric osteolysis-nodulosis-arthropathy spectrum
MONDO:0032822 OMIM:618580 - developmental and epileptic encephalopathy, 80
MONDO:0044718 OMIM:617762 Orphanet:502444 alkaline ceramidase 3 deficiency
MONDO:0009693 OMIM:254500 Orphanet:85443 plasma cell myeloma
MONDO:0005578 - - arthritic joint disease
MONDO:0030837 OMIM:619092 - neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
MONDO:0011541 OMIM:605362 Orphanet:217622 dilated cardiomyopathy 1J
MONDO:0030036 OMIM:618878 - leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
MONDO:0007747 OMIM:143860 Orphanet:542657 isolated hyperchlorhidrosis
MONDO:0009661 OMIM:253200 Orphanet:583 mucopolysaccharidosis type 6
MONDO:0012172 OMIM:609015 Orphanet:746 mitochondrial trifunctional protein deficiency
MONDO:0011365 OMIM:603736 Orphanet:3047 blepharophimosis - intellectual disability syndrome, SBBYS type
MONDO:0007794 OMIM:146110 - hypogonadotropic hypogonadism 7 with or without anosmia
MONDO:0009475 OMIM:243500 Orphanet:33 isovaleric acidemia
MONDO:0008869 OMIM:210600 Orphanet:808 Seckel syndrome 1
MONDO:0018709 OMIM:300958 Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome
MONDO:0009823 OMIM:259900 Orphanet:93598 primary hyperoxaluria type 1
MONDO:0033668 OMIM:619086 - hearing loss, autosomal dominant 79
MONDO:0014303 OMIM:615683 Orphanet:401810 hereditary spastic paraplegia 64
MONDO:0032842 OMIM:618635 - siddiqi syndrome
MONDO:0007750 OMIM:143890 Orphanet:391665 hypercholesterolemia, familial, 1
MONDO:0017721 OMIM:268800 Orphanet:309155 Sandhoff disease, infantile form
MONDO:0019799 OMIM:176100 Orphanet:95159 hepatoerythropoietic porphyria
MONDO:0020769 OMIM:618333 - Menke-Hennekam syndrome 2
MONDO:0019311 OMIM:162900 Orphanet:79414 woolly hair nevus
MONDO:0009689 OMIM:254210 Orphanet:98914 congenital myasthenic syndrome 6
MONDO:0019576 - Orphanet:90389 telangiectasia macularis eruptiva perstans
MONDO:0013783 OMIM:614497 Orphanet:98938 microphthalmia, isolated, with coloboma 7
MONDO:0100340 OMIM:229300 - Friedreich ataxia 1
MONDO:0010687 OMIM:310468 Orphanet:93622 nephrolithiasis, X-linked recessive, with renal failure
MONDO:0019182 OMIM:601665 Orphanet:77828 inherited obesity
MONDO:0013843 OMIM:614665 Orphanet:314376 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
MONDO:0009339 OMIM:235555 Orphanet:79303 congenital bile acid synthesis defect 2
MONDO:0014991 OMIM:617253 - Seckel syndrome 10
MONDO:0012704 OMIM:611615 Orphanet:154 dilated cardiomyopathy 1X
MONDO:0014843 OMIM:616946 - premature ovarian failure 11
MONDO:0016025 OMIM:616421 Orphanet:1942 myoclonic-astastic epilepsy
MONDO:0018467 OMIM:219800 Orphanet:411629 nephropathic infantile cystinosis
MONDO:0044325 OMIM:617784 - Fanconi anemia, complementation group W
MONDO:0009400 OMIM:239500 Orphanet:419 hyperprolinemia type 1
MONDO:0007374 OMIM:121800 Orphanet:98967 Schnyder corneal dystrophy
MONDO:0014832 OMIM:616917 Orphanet:488635 intellectual disability, autosomal recessive 53
MONDO:0011414 OMIM:612968 Orphanet:708 Peters anomaly
MONDO:0018967 OMIM:307200 Orphanet:632 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
MONDO:0012274 OMIM:609441 - acromesomelic dysplasia 3
MONDO:0014516 OMIM:616171 Orphanet:808 microcephaly and chorioretinopathy 2
MONDO:0009622 OMIM:251255 Orphanet:313795 Jawad syndrome
MONDO:0012073 OMIM:608611 Orphanet:440706 ribose-5-P isomerase deficiency
MONDO:0030966 OMIM:619194 - neurofacioskeletal syndrome with or without renal agenesis
MONDO:0032837 OMIM:618620 - abdominal obesity-metabolic syndrome 4
MONDO:0014834 OMIM:616921 - dyskinesia, limb and orofacial, infantile-onset
MONDO:0010826 OMIM:612269 Orphanet:64280 childhood absence epilepsy
MONDO:0017723 OMIM:268800 Orphanet:309169 Sandhoff disease, adult form
MONDO:0011066 OMIM:601382 Orphanet:99955 Charcot-Marie-Tooth disease type 4B1
MONDO:0014108 OMIM:615272 - Fanconi anemia complementation group Q
MONDO:0014372 OMIM:615860 - cone-rod dystrophy 19
MONDO:0009973 OMIM:267500 Orphanet:33355 reticular dysgenesis
MONDO:0033613 OMIM:619026 Orphanet:210141 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
MONDO:0000437 - Orphanet:102002 cerebellar ataxia
MONDO:0010136 OMIM:274800 Orphanet:95716 thyroid dyshormonogenesis 4
MONDO:0005075 OMIM:188550 - thyroid gland papillary carcinoma
MONDO:0032922 OMIM:618798 - Beck-Fahrner syndrome
MONDO:0010665 OMIM:309585 Orphanet:3459 Wilson-Turner syndrome
MONDO:0007429 OMIM:125250 Orphanet:1215 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
MONDO:0013687 OMIM:614322 Orphanet:284282 autosomal recessive spinocerebellar ataxia 12
MONDO:0013108 OMIM:613065 Orphanet:513 leukemia, acute lymphocytic, susceptibility to, 1
MONDO:0011829 OMIM:607426 Orphanet:255249 coenzyme Q10 deficiency, primary, 1
MONDO:0014706 OMIM:616603 - cutis laxa, autosomal dominant 3
MONDO:0022435 - - Mauriac syndrome
MONDO:0009894 OMIM:263520 Orphanet:93269 short-rib thoracic dysplasia 6 with or without polydactyly
MONDO:0001595 OMIM:215450 Orphanet:1429 choreatic disease
MONDO:0013619 OMIM:614196 - nephrotic syndrome, type 6
MONDO:0010703 OMIM:311250 Orphanet:664 ornithine carbamoyltransferase deficiency
MONDO:0016310 - Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset
MONDO:0010172 OMIM:314390 Orphanet:3412 VACTERL with hydrocephalus
MONDO:0023659 OMIM:619340 - developmental and epileptic encephalopathy 96
MONDO:0010222 OMIM:300000 Orphanet:306597 X-linked Opitz G/BBB syndrome
MONDO:0060578 OMIM:617710 Orphanet:572798 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
MONDO:0044339 OMIM:603932 - lumbar disc degenerative disorder
MONDO:0009006 OMIM:217000 Orphanet:169147 complement component 2 deficiency
MONDO:0018416 - Orphanet:401795 autosomal recessive spastic paraplegia type 59
MONDO:0032740 OMIM:618422 - hearing loss, autosomal recessive 100
MONDO:0017101 OMIM:607341 Orphanet:269001 isolated focal cortical dysplasia type IIa
MONDO:0014174 OMIM:615415 Orphanet:294415 renal-hepatic-pancreatic dysplasia 2
MONDO:0007273 OMIM:115310 Orphanet:29072 paragangliomas 4
MONDO:0012991 OMIM:612713 Orphanet:168972 Kahrizi syndrome
MONDO:0016304 - Orphanet:216866 classic pantothenate kinase-associated neurodegeneration
MONDO:0009805 OMIM:259440 Orphanet:216820 osteogenesis imperfecta type 9
MONDO:0009796 OMIM:258870 Orphanet:414 ornithine aminotransferase deficiency
MONDO:0013487 OMIM:613912 Orphanet:169467 recurrent Neisseria infections due to factor D deficiency
MONDO:0014864 OMIM:617013 Orphanet:521406 hypermanganesemia with dystonia 2
MONDO:0011996 OMIM:608232 Orphanet:521 chronic myelogenous leukemia, BCR-ABL1 positive
MONDO:0013042 OMIM:612924 Orphanet:93578 atypical hemolytic-uremic syndrome with B factor anomaly
MONDO:0014120 OMIM:615287 Orphanet:899 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
MONDO:0032730 OMIM:618404 - leukodystrophy, hypomyelinating, 18
MONDO:0018742 - Orphanet:464756 familial gastric type 1 neuroendocrine tumor
MONDO:0016825 OMIM:251950 Orphanet:2597 mitochondrial myopathy-lactic acidosis-deafness syndrome
MONDO:0014899 OMIM:617070 Orphanet:329314 adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
MONDO:0030043 OMIM:618885 - congenital disorder of glycosylation, type iit
MONDO:0032599 OMIM:618204 - immunodeficiency 15a
MONDO:0013580 OMIM:614111 Orphanet:765 pyruvate dehydrogenase E1-beta deficiency
MONDO:8000013 OMIM:617068 - portal hypertension, noncirrhotic, 1
MONDO:0016306 - Orphanet:216972 Niemann-Pick disease type C, severe perinatal form
MONDO:0017172 - Orphanet:276223 mucopolysaccharidosis type 6, slowly progressing
MONDO:0030900 OMIM:619150 - intellectual developmental disorder with paroxysmal dyskinesia or seizures
MONDO:0011091 OMIM:601472 Orphanet:99938 Charcot-Marie-Tooth disease type 2D
MONDO:0019638 - Orphanet:93108 renal dysplasia
MONDO:0015788 - Orphanet:177929 symptomatic form of hemophilia B in female carriers
MONDO:0020763 OMIM:618332 - Menke-Hennekam syndrome 1
MONDO:0044303 OMIM:617364 - congenital heart defects and ectodermal dysplasia
MONDO:0001561 - - pyloric stenosis
MONDO:0032610 OMIM:618226 - mitochondrial complex 1 deficiency, nuclear type 5
MONDO:0007748 OMIM:143870 Orphanet:2197 hypercalciuria, absorptive, 2
MONDO:0032920 OMIM:618795 - juvenile arthritis due to defect in LACC1
MONDO:0018710 OMIM:617011 Orphanet:457359 megalencephaly-severe kyphoscoliosis-overgrowth syndrome
MONDO:0014837 OMIM:616937 Orphanet:480851 thrombocytopenia 6
MONDO:0014225 OMIM:615517 Orphanet:447792 hemochromatosis type 5
MONDO:0100428 OMIM:211500 Orphanet:56965 progressive bulbar palsy of childhood
MONDO:0012930 OMIM:612541 Orphanet:331176 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
MONDO:0012349 OMIM:609813 Orphanet:2311 spondylocostal dysostosis 3, autosomal recessive
MONDO:0014257 OMIM:615573 Orphanet:656 nephrotic syndrome, type 9
MONDO:0014189 OMIM:615439 - age related macular degeneration 13
MONDO:0017692 - Orphanet:308487 generalized galactose epimerase deficiency
MONDO:0020344 OMIM:616720 Orphanet:98913 postsynaptic congenital myasthenic syndrome
MONDO:0014998 OMIM:617272 - glaucoma 3, primary congenital, E
MONDO:0011650 OMIM:606217 Orphanet:98722 atrioventricular septal defect, susceptibility to, 2
MONDO:0010359 OMIM:300555 Orphanet:93623 Dent disease type 2
MONDO:0018445 - Orphanet:404476 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
MONDO:0010361 OMIM:300558 Orphanet:777 intellectual disability, X-linked 30
MONDO:0019531 OMIM:618660 Orphanet:90030 hemolytic anemia due to glutathione reductase deficiency
MONDO:0009607 OMIM:250850 Orphanet:168598 methionine adenosyltransferase deficiency
MONDO:0008967 OMIM:614307 Orphanet:79095 congenital bile acid synthesis defect 4
MONDO:0013468 OMIM:613861 - retinitis pigmentosa 59
MONDO:0032774 OMIM:618479 - cerebellar, ocular, craniofacial, and genital syndrome
MONDO:0020856 OMIM:618116 - bone marrow failure syndrome 4
MONDO:0008134 OMIM:610708 Orphanet:98673 autosomal dominant optic atrophy, classic form
MONDO:0008045 OMIM:159950 Orphanet:2590 spinal muscular atrophy-progressive myoclonic epilepsy syndrome
MONDO:0017884 OMIM:605074 Orphanet:47044 papillary renal cell carcinoma
MONDO:0032935 OMIM:618821 - rhizomelic limb shortening with dysmorphic features
MONDO:0015967 - Orphanet:183625 monogenic diabetes
MONDO:0007610 OMIM:135400 Orphanet:2026 gingival fibromatosis-hypertrichosis syndrome
MONDO:0032649 OMIM:618275 - hypotrichosis 14
MONDO:0014929 OMIM:617123 - retinitis pigmentosa 76
MONDO:0020603 OMIM:302960 Orphanet:35173 X-linked chondrodysplasia punctata 2
MONDO:0010532 OMIM:301830 Orphanet:1145 infantile-onset X-linked spinal muscular atrophy
MONDO:0014673 OMIM:616509 Orphanet:98994 cataract 44
MONDO:0009369 OMIM:236750 Orphanet:363999 non-immune hydrops fetalis
MONDO:0010298 OMIM:308950 Orphanet:510 Lesch-Nyhan syndrome
MONDO:0012383 OMIM:609981 Orphanet:75391 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
MONDO:0018129 - Orphanet:352641 autosomal recessive cerebellar ataxia with late-onset spasticity
MONDO:0010150 OMIM:275355 Orphanet:67037 head and neck squamous cell carcinoma
MONDO:0005272 - Orphanet:98826 refractory anemia
MONDO:0010214 OMIM:278750 Orphanet:910 xeroderma pigmentosum variant type
MONDO:0008464 OMIM:183600 Orphanet:2440 split hand-foot malformation 1
MONDO:0012301 OMIM:609560 Orphanet:254875 mitochondrial DNA depletion syndrome, myopathic form
MONDO:0009578 OMIM:249400 Orphanet:2481 neurocutaneous melanocytosis
MONDO:0012222 OMIM:609242 Orphanet:79280 alpha-N-acetylgalactosaminidase deficiency type 2
MONDO:0030897 OMIM:619149 - Lessel-Kreienkamp syndrome
MONDO:0030924 OMIM:619175 - proteasome-associated autoinflammatory syndrome 5
MONDO:0014003 OMIM:615006 Orphanet:3451 developmental and epileptic encephalopathy, 15
MONDO:0009925 OMIM:264800 Orphanet:758 autosomal recessive inherited pseudoxanthoma elasticum
MONDO:0032811 OMIM:618555 - night blindness, congenital stationary, type1i
MONDO:0018337 OMIM:615595 Orphanet:397593 severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
MONDO:0032721 OMIM:618392 - spondyloepiphyseal dysplasia, kondo-fu type
MONDO:0012714 OMIM:611705 Orphanet:289377 early-onset myopathy with fatal cardiomyopathy
MONDO:0032592 OMIM:618189 - cardiomyopathy, dilated, 2c
MONDO:0013505 OMIM:613958 Orphanet:399808 spermatogenic failure 9
MONDO:0007888 OMIM:150800 Orphanet:523 hereditary leiomyomatosis and renal cell cancer
MONDO:0013315 OMIM:613582 Orphanet:791 retinitis pigmentosa 57
MONDO:0012803 OMIM:612119 Orphanet:103909 diarrhea-vomiting due to trehalase deficiency
MONDO:0019438 OMIM:254500 Orphanet:85443 AL amyloidosis
MONDO:0010486 OMIM:300918 Orphanet:659 Olmsted syndrome, X-linked
MONDO:0013038 OMIM:612918 Orphanet:140944 CLOVES syndrome
MONDO:0009770 OMIM:257920 Orphanet:293843 3MC syndrome 1
MONDO:0010083 OMIM:271980 Orphanet:22 succinic semialdehyde dehydrogenase deficiency
MONDO:0014717 OMIM:616640 Orphanet:324290 early-onset Lafora body disease
MONDO:0015085 OMIM:242300 Orphanet:100976 bathing suit ichthyosis
MONDO:0012552 OMIM:610755 Orphanet:276152 multiple endocrine neoplasia type 4
MONDO:0011835 OMIM:613832 Orphanet:70595 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
MONDO:0010594 OMIM:305690 - inherited genitourinary tract anomalies
MONDO:0011120 OMIM:601634 Orphanet:823 neural tube defects, folate-sensitive
MONDO:0032888 OMIM:618731 - neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
MONDO:0014746 OMIM:616721 Orphanet:468699 SLC39A8-CDG
MONDO:0014080 OMIM:615198 Orphanet:500548 osteosclerotic metaphyseal dysplasia
MONDO:0001071 - Orphanet:319658 intellectual disability
MONDO:0011772 OMIM:607091 Orphanet:79332 B4GALT1-CDG
MONDO:0010651 OMIM:309400 Orphanet:565 Menkes disease
MONDO:0014298 OMIM:615668 Orphanet:439822 chromosome 5q12 deletion syndrome
MONDO:0012382 OMIM:609975 Orphanet:71212 hyperinsulinemic hypoglycemia, familial, 4
MONDO:0013454 OMIM:613837 - Leber congenital amaurosis 11
MONDO:0010699 OMIM:311070 Orphanet:99014 Charcot-Marie-Tooth disease X-linked recessive 5
MONDO:0005044 OMIM:145500 - hypertensive disorder
MONDO:0001150 OMIM:615219 Orphanet:2185 hydrocephalus
MONDO:0009377 OMIM:237310 Orphanet:927 hyperammonemia due to N-acetylglutamate synthase deficiency
MONDO:0011106 OMIM:601552 Orphanet:412022 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
MONDO:0030045 OMIM:618889 - Liberfarb syndrome
MONDO:0014809 OMIM:616871 Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome
MONDO:0006928 OMIM:193235 Orphanet:329211 proliferative vitreoretinopathy
MONDO:0010909 OMIM:600630 Orphanet:178338 UV-sensitive syndrome 1
MONDO:0013231 OMIM:613341 Orphanet:791 Leber congenital amaurosis 14
MONDO:0009703 OMIM:255100 - myopathy with abnormal lipid metabolism
MONDO:0014231 OMIM:615528 Orphanet:391411 juvenile onset Parkinson disease 19A
MONDO:0032805 OMIM:618541 - hypopigmentation, organomegaly, and delayed myelination and development
MONDO:0009806 OMIM:259450 Orphanet:2771 Bruck syndrome 1
MONDO:0054743 OMIM:617874 - polycystic liver disease 3 with or without kidney cysts
MONDO:0010193 OMIM:277590 Orphanet:3447 Weaver syndrome
MONDO:0015702 OMIM:608971 Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency
MONDO:0009039 OMIM:218600 Orphanet:1225 Baller-Gerold syndrome
MONDO:0008760 OMIM:203750 Orphanet:134 beta-ketothiolase deficiency
MONDO:0054699 OMIM:617591 - proteasome-associated autoinflammatory syndrome 3
MONDO:0030058 OMIM:618915 - hearing loss, autosomal dominant 77
MONDO:0033657 OMIM:619071 - leukodystrophy, hypomyelinating, 20
MONDO:0011868 OMIM:607598 Orphanet:137783 lethal congenital contracture syndrome 2
MONDO:0009115 OMIM:223000 Orphanet:53690 congenital lactase deficiency
MONDO:0011688 OMIM:606612 Orphanet:52428 muscular dystrophy-dystroglycanopathy type B5
MONDO:0010791 OMIM:550500 Orphanet:99845 myoglobinuria, recurrent
MONDO:0011570 OMIM:605589 Orphanet:101101 Charcot-Marie-Tooth disease type 2B2
MONDO:0014151 OMIM:615371 - pulmonary hypertension, neonatal, susceptibility to
MONDO:0030866 OMIM:619121 - neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
MONDO:0024457 OMIM:610217 Orphanet:35069 neurodegeneration with brain iron accumulation 2A
MONDO:0013117 OMIM:613077 Orphanet:254892 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
MONDO:0024288 - - hyperbilirubinemia
MONDO:0010200 OMIM:277900 Orphanet:905 Wilson disease
MONDO:0014050 OMIM:615113 Orphanet:2542 isolated microphthalmia 8
MONDO:0010689 OMIM:310490 Orphanet:101078 Charcot-Marie-Tooth disease X-linked recessive 4
MONDO:0032794 OMIM:618513 - leber congenital amaurosis 19
MONDO:0012845 OMIM:612278 - inflammatory bowel disease 19
MONDO:0010543 OMIM:302060 Orphanet:111 Barth syndrome
MONDO:0013116 OMIM:613076 Orphanet:330054 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
MONDO:0009998 OMIM:268305 Orphanet:3102 Richieri Costa-Pereira syndrome
MONDO:0020681 OMIM:601776 - Ehlers-Danlos syndrome, musculocontractural type 1
MONDO:0005148 OMIM:616087 - type 2 diabetes mellitus
MONDO:0013898 OMIM:614817 Orphanet:401996 karyomegalic interstitial nephritis
MONDO:0060759 OMIM:618088 Orphanet:597623 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
MONDO:0009026 OMIM:218040 Orphanet:3071 Costello syndrome
MONDO:0012764 OMIM:611943 Orphanet:420741 RIDDLE syndrome
MONDO:0016642 OMIM:606190 Orphanet:2495 meningioma
MONDO:0011806 OMIM:609143 Orphanet:488265 osteofibrous dysplasia
MONDO:0001044 - - esophageal atresia
MONDO:0014735 OMIM:616687 Orphanet:435387 Charcot-Marie-Tooth disease type 2Y
MONDO:0010943 OMIM:600850 - schizophrenia 4
MONDO:0008171 OMIM:605990 - nephrolithiasis
MONDO:0007893 OMIM:613707 Orphanet:500 Noonan syndrome with multiple lentigines
MONDO:0019157 - Orphanet:75564 acquired idiopathic sideroblastic anemia
MONDO:0019666 OMIM:612847 Orphanet:93282 spondyloepimetaphyseal dysplasia, PAPSS2 type
MONDO:0005392 - - scoliosis
MONDO:0013941 OMIM:614875 Orphanet:99646 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
MONDO:0007892 OMIM:151050 Orphanet:2658 Lenz-Majewski hyperostotic dwarfism
MONDO:0007844 OMIM:147950 - hypogonadotropic hypogonadism 2 with or without anosmia
MONDO:0014687 OMIM:616544 - retinitis pigmentosa 73
MONDO:0100003 OMIM:300909 - susceptibility to angioedema induced by ACE inhibitors
MONDO:0012570 OMIM:610842 Orphanet:91135 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
MONDO:0009306 OMIM:233650 Orphanet:157949 combined immunodeficiency with skin granulomas
MONDO:0009376 OMIM:237300 Orphanet:147 carbamoyl phosphate synthetase I deficiency disease
MONDO:0013869 OMIM:614723 Orphanet:976 adenine phosphoribosyltransferase deficiency
MONDO:0013605 OMIM:614170 Orphanet:90354 brittle cornea syndrome 2
MONDO:0100133 - Orphanet:2609 mitochondrial complex I deficiency
MONDO:0100215 OMIM:618007 Orphanet:178506 Rajab interstitial lung disease with brain calcifications 1
MONDO:0018997 OMIM:616564 Orphanet:648 Noonan syndrome
MONDO:0012235 OMIM:609270 Orphanet:284324 autosomal recessive spinocerebellar ataxia 7
MONDO:0015353 OMIM:600794 Orphanet:139536 neuronopathy, distal hereditary motor, type 5A
MONDO:0032798 OMIM:618527 - ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
MONDO:0014017 OMIM:615032 - autism, susceptibility to, 18
MONDO:0020743 - Orphanet:530995 mixed phenotype acute leukemia
MONDO:0017691 - Orphanet:308473 erythrocyte galactose epimerase deficiency
MONDO:0032851 OMIM:618653 - intellectual developmental disorder with impaired language and dysmorphic facies
MONDO:0007874 OMIM:150230 Orphanet:502 trichorhinophalangeal syndrome type II
MONDO:0013999 OMIM:614979 Orphanet:313800 optic nerve edema-splenomegaly syndrome
MONDO:0007726 OMIM:142669 Orphanet:2114 hip dysplasia, Beukes type
MONDO:0008104 OMIM:163950 Orphanet:648 Noonan syndrome 1
MONDO:0008243 OMIM:172700 Orphanet:282 Pick disease
MONDO:0032571 OMIM:618162 - spondyloepimetaphyseal dysplasia, Krakow type
MONDO:0019597 OMIM:202110 Orphanet:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency
MONDO:0010378 OMIM:300614 Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with hearing loss
MONDO:0011329 - - obsolete cerebral palsy, spastic quadriplegic, 1
MONDO:0013429 OMIM:613801 - retinitis pigmentosa 40
MONDO:0007236 OMIM:113650 Orphanet:107 branchiootorenal syndrome 1
MONDO:0013113 OMIM:613073 Orphanet:1040 metaphyseal anadysplasia 2
MONDO:0012205 OMIM:609161 - autosomal dominant striatal neurodegeneration type 1
MONDO:0018914 OMIM:615885 Orphanet:55654 hypotrichosis simplex
MONDO:0010178 OMIM:277180 Orphanet:48 congenital bilateral aplasia of vas deferens from CFTR mutation