Heterogeneous
Symptom Information:
| Symptom ID: | HPO:0001425 | ||||
| Synonyms: |
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| Quality: | |||||
| Cross references: |
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| Is a (Direct Parents): |
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| Is a (Whole tree): |
HPO:
All(HPO:0000001) Mode of inheritance(HPO:0000005) Heterogeneous(HPO:0001425) MedDRA: |
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| Database Frequency: | 132 / 7739 | ||||
| Resource: |
All diseases associated with this symptom:
| 46,XY SEX REVERSAL 7 | (OMIM:233420) |
| AMELOGENESIS IMPERFECTA, TYPE IC | (OMIM:204650) |
| AXENFELD-RIEGER SYNDROME, TYPE 3 | (OMIM:602482) |
| Acrocallosal syndrome | (Orphanet:36) |
| Adult-onset autosomal recessive sideroblastic anemia | (Orphanet:255132) |
| Amyotrophic lateral sclerosis | (Orphanet:803) |
| Ataxia - tapetoretinal degeneration | (Orphanet:1178) |
| Autosomal dominant Charcot-Marie-Tooth disease type 2A1 | (Orphanet:99946) |
| Autosomal dominant cutis laxa | (Orphanet:90348) |
| Autosomal dominant hyperinsulinism due to SUR1 deficiency | (Orphanet:276575) |
| Autosomal dominant hypohidrotic ectodermal dysplasia | (Orphanet:1810) |
| Autosomal dominant limb-girdle muscular dystrophy type 1A | (Orphanet:266) |
| Autosomal dominant spastic paraplegia type 3 | (Orphanet:100984) |
| Autosomal recessive Alport syndrome | (Orphanet:88919) |
| Autosomal recessive cutis laxa type 1 | (Orphanet:90349) |
| BARTTER SYNDROME, TYPE 4B | (OMIM:613090) |
| BOR syndrome | (Orphanet:107) |
| BRACHYDACTYLY, TYPE A1, B | (OMIM:607004) |
| Benign familial neonatal seizures | (Orphanet:1949) |
| Brachydactyly type A1 | (Orphanet:93388) |
| CELIAC DISEASE, SUSCEPTIBILITY TO, 1 | (OMIM:212750) |
| CHILD syndrome | (Orphanet:139) |
| CILIARY DYSKINESIA, PRIMARY, 1 | (OMIM:244400) |
| COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 | (OMIM:612229) |
| Charcot-Marie-Tooth disease type 1A | (Orphanet:101081) |
| Charcot-Marie-Tooth disease type 1B | (Orphanet:101082) |
| Charcot-Marie-Tooth disease type 4A | (Orphanet:99948) |
| Chronic respiratory distress with surfactant metabolism deficiency | (Orphanet:217566) |
| Common hereditary elliptocytosis | (Orphanet:98864) |
| Congenital bilateral absence of vas deferens | (Orphanet:48) |
| Congenital fiber-type disproportion myopathy | (Orphanet:2020) |
| Congenital glaucoma | (Orphanet:98976) |
| DIABETES MELLITUS, INSULIN-DEPENDENT | (OMIM:222100) |
| Dejerine-Sottas syndrome | (Orphanet:64748) |
| EEC syndrome | (Orphanet:1896) |
| EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED | (OMIM:130090) |
| ENURESIS, NOCTURNAL, 2 | (OMIM:600808) |
| EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 | (OMIM:607682) |
| Ear-patella-short stature syndrome | (Orphanet:2554) |
| Early-onset autosomal dominant Alzheimer disease | (Orphanet:1020) |
| Endomyocardial fibroelastosis | (Orphanet:2022) |
| FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 | (OMIM:613282) |
| FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 | (OMIM:613387) |
| FEBRILE SEIZURES, FAMILIAL, 1 | (OMIM:121210) |
| Familial or sporadic hemiplegic migraine | (Orphanet:569) |
| Familial progressive cardiac conduction defect | (Orphanet:871) |
| Gorlin syndrome | (Orphanet:377) |
| Griscelli disease type 3 | (Orphanet:79478) |
| HOLOPROSENCEPHALY 2 | (OMIM:157170) |
| Hereditary breast cancer | (Orphanet:227535) |
| Hereditary cerebral cavernous malformation | (Orphanet:221061) |
| Hereditary hemorrhagic telangiectasia | (Orphanet:774) |
| Hereditary motor and sensory neuropathy type 5 | (Orphanet:64751) |
| Hermansky-Pudlak syndrome with pulmonary fibrosis | (Orphanet:231500) |
| Hot water reflex epilepsy | (Orphanet:166412) |
| Hyperlipoproteinemia type 4 | (Orphanet:413) |
| IMMUNOGLOBULIN A DEFICIENCY 1 | (OMIM:137100) |
| INFLAMMATORY BOWEL DISEASE 1 | (OMIM:266600) |
| Idiopathic hypercalciuria | (Orphanet:2197) |
| IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1 | (OMIM:161950) |
| Infantile Bartter syndrome with deafness | (Orphanet:89938) |
| Inherited congenital spastic tetraplegia | (Orphanet:210141) |
| Isolated Dandy-Walker malformation | (Orphanet:217) |
| Ito hypomelanosis | (Orphanet:435) |
| Joubert syndrome | (Orphanet:475) |
| Joubert syndrome 2 | (OMIM:608091) |
| Joubert syndrome with hepatic defect | (Orphanet:1454) |
| Joubert syndrome with ocular defect | (Orphanet:220493) |
| KERATOCONUS 1 | (OMIM:148300) |
| KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT | (OMIM:612843) |
| Kallmann syndrome | (Orphanet:478) |
| Keratosis follicularis spinulosa decalvans | (Orphanet:2340) |
| LEISHMANIASIS, TEGUMENTARY, SUSCEPTIBILITY TO | (OMIM:602068) |
| Lafora disease | (Orphanet:501) |
| Leber congenital amaurosis | (Orphanet:65) |
| Lethal restrictive dermopathy | (Orphanet:1662) |
| Localized junctional epidermolysis bullosa, non-Herlitz type | (Orphanet:251393) |
| Loeys-Dietz syndrome type 1 | (Orphanet:60030) |
| MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 | (OMIM:154275) |
| MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 | (OMIM:154276) |
| MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:608393) |
| MICROCOLON | (OMIM:251400) |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 | (OMIM:613150) |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 | (OMIM:253280) |
| MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE | (OMIM:159100) |
| MYOPIA 3, AUTOSOMAL DOMINANT | (OMIM:603221) |
| MYOPIA 5, AUTOSOMAL DOMINANT | (OMIM:608474) |
| Mandibuloacral dysplasia | (Orphanet:2457) |
| Maxillo-nasal dysplasia | (Orphanet:1248) |
| Meckel syndrome, type 5 | (OMIM:611561) |
| Miyoshi myopathy | (Orphanet:45448) |
| Muscle-eye-brain disease | (Orphanet:588) |
| NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI | (OMIM:162270) |
| NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A | (OMIM:300071) |
| NYSTAGMUS 1, CONGENITAL, X-LINKED | (OMIM:310700) |
| NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT | (OMIM:164100) |
| Narcolepsy-cataplexy | (Orphanet:2073) |
| Nemaline myopathy | (Orphanet:607) |
| Neonatal acute respiratory distress with surfactant metabolism deficiency | (Orphanet:217563) |
| Nephroblastoma | (Orphanet:654) |
| Neuroblastoma | (Orphanet:635) |
| Noonan syndrome | (Orphanet:648) |
| OROFACIAL CLEFT 1 | (OMIM:119530) |
| OSTEOARTHRITIS SUSCEPTIBILITY 1 | (OMIM:165720) |
| PACHYONYCHIA CONGENITA 2 | (OMIM:167210) |
| PAGET DISEASE OF BONE | (OMIM:602080) |
| PERIODONTITIS, AGGRESSIVE, 1 | (OMIM:170650) |
| POLYCYSTIC KIDNEY DISEASE 1 | (OMIM:173900) |
| Pachyonychia congenita | (Orphanet:2309) |
| Palmoplantar keratoderma-spastic paralysis syndrome | (Orphanet:2201) |
| Parietal foramina | (Orphanet:60015) |
| Porphyria cutanea tarda | (Orphanet:101330) |
| Punctate palmoplantar keratoderma type 1 | (Orphanet:79501) |
| Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
| SCHIZOPHRENIA | (OMIM:181500) |
| SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 | (OMIM:610921) |
| Senior-Loken syndrome | (Orphanet:3156) |
| THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 | (OMIM:613239) |
| Tetraamelia - multiple malformations | (Orphanet:3301) |
| Thrombotic thrombocytopenic purpura | (Orphanet:54057) |
| Thyrotoxic periodic paralysis | (Orphanet:79102) |
| UV-sensitive syndrome | (Orphanet:178338) |
| Usher syndrome type 1 | (Orphanet:231169) |
| WAARDENBURG SYNDROME, TYPE 2D | (OMIM:608890) |
| WAARDENBURG SYNDROME, TYPE 2E | (OMIM:611584) |
| WAARDENBURG SYNDROME, TYPE 4B | (OMIM:613265) |
| WAARDENBURG SYNDROME, TYPE 4C | (OMIM:613266) |
| Waardenburg syndrome type 2 | (Orphanet:895) |
| Waardenburg-Shah syndrome | (Orphanet:897) |
| X-linked Alport syndrome | (Orphanet:88917) |
| X-linked hypohidrotic ectodermal dysplasia | (Orphanet:181) |
| Zellweger syndrome | (Orphanet:912) |