Human | CTRCT29 | 101867602 | Cataract 29, coralliform |
HP RolledUp, OMIM ID: 115800 Category = humanphenotype |
Human | PAURT1 | 101669760 | Preauricular tag, isolated, autosomal dominant, 1 |
HP RolledUp, OMIM ID: 610420 Category = humanphenotype |
Human | GLC1P | 101448070 | glaucoma 1, open angle, P |
HP RolledUp, OMIM ID: 177700 Category = humanphenotype
HP RolledUp, OMIM ID: 615141 Category = humanphenotype |
Human | CORD17 | 101409267 | cone rod dystrophy 17 (autosomal dominant) |
HP RolledUp, OMIM ID: 615163 Category = humanphenotype |
Human | FAME4 | 101409188 | Epilepsy, familial adult myoclonic, 4 |
HP RolledUp, OMIM ID: 615127 Category = humanphenotype |
Human | OPHLC | 101290499 | Omphalocele due to duplication of 1p31.3 |
HP RolledUp, OMIM ID: 310980 Category = humanphenotype
HP RolledUp, OMIM ID: 164750 Category = humanphenotype |
Human | SMAJ | 101241900 | Spinal muscular atrophy, Jokela type |
HP RolledUp, OMIM ID: 615048 Category = humanphenotype |
Human | PAPA5 | 101241897 | Polydactyly, postaxial, type A5 |
HP RolledUp, OMIM ID: 263450 Category = humanphenotype |
Human | SPG43 | 101234260 | spastic paraplegia 43 (autosomal recessive) |
HP RolledUp, OMIM ID: 615043 Category = humanphenotype |
Human | ARCI9 | 101202687 | Ichthyosis, congenital, autosomal recessive 9 |
HP RolledUp, OMIM ID: 615023 Category = humanphenotype |
Human | USH1K | 101180907 | Usher syndrome 1K (autosomal recessive) |
HP RolledUp, OMIM ID: 614990 Category = humanphenotype |
Human | PPKP1B | 101154752 | Keratoderma, palmoplantar, punctate type IB |
HP RolledUp, OMIM ID: 614936 Category = humanphenotype |
Human | ECTD7 | 101101771 | Ectodermal dysplasia 7, hair/nail type |
HP RolledUp, OMIM ID: 614929 Category = humanphenotype |
Human | ECTD6 | 101101770 | Ectodermal dysplasia 6, hair/nail type |
HP RolledUp, OMIM ID: 614928 Category = humanphenotype |
Human | ECTD5 | 101101769 | Ectodermal dysplasia 5, hair/nail type |
HP RolledUp, OMIM ID: 614927 Category = humanphenotype |
Human | ECTD8 | 101101768 | Ectodermal dysplasia 8, hair/tooth/nail type |
HP RolledUp, OMIM ID: 602401 Category = humanphenotype |
Human | POROK7 | 101101698 | Porokeratosis 7, disseminated superficial actinic |
HP RolledUp, OMIM ID: 614714 Category = humanphenotype |
Human | HMSN5 | 101059903 | Hereditary motor and sensory neuropathy V |
HP RolledUp, OMIM ID: 600361 Category = humanphenotype |
Human | NYS7 | 101055624 | Nystagmus 7, congenital |
HP RolledUp, OMIM ID: 614826 Category = humanphenotype |
Human | PDA1 | 100996949 | Patent ductus arteriosus, susceptibility to |
HP RolledUp, OMIM ID: 607411 Category = humanphenotype |
Human | CMH21 | 100909387 | Cardiomyopathy, familial hypertrophic, 21 |
HP RolledUp, OMIM ID: 614676 Category = humanphenotype |
Human | DUP16P11.2 | 100909384 | |
HP RolledUp, OMIM ID: 614671 Category = humanphenotype |
Human | DFNB86 | 100887823 | deafness, autosomal recessive 86 |
HP RolledUp, OMIM ID: 614617 Category = humanphenotype |
Human | KTCN7 | 100887822 | Keratoconus 7 |
HP RolledUp, OMIM ID: 614629 Category = humanphenotype |
Human | DELXQ21 | 100887743 | Choroideremia, deafness, and mental retardation |
HP RolledUp, OMIM ID: 303110 Category = humanphenotype |