Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Hypopigmentation of the skin, Seizure, Accumulation of melanosomes in melanocyt... |
OMIM:214450 |
Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Seizure, Accumulation of melanosomes in melanocyt... |
OMIM:607624 |
Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... |
ORPHA:189 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
Neuroectodermal Melanolysosomal Disease |
|
Generalized hyperpigmentation, Hypopigmentation of the skin, Seizure, Hypopigmentation of hair, P... |
ORPHA:33445 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Elejalde Disease |
|
Silver-gray hair, Hypopigmentation of the skin, Seizure, Accumulation of melanosomes in melanocyt... |
OMIM:256710 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Hypogonadotropic hypogonadism, Hypopigmentation of the skin, Iris hypopigmentation, H... |
ORPHA:177910 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hypopigmentation of the skin, Seizure, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:411515 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hypoglycemic seizures, Polyphagia, Red hair |
OMIM:609734 |
Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Hypoglycemic seizures, Polyphagia, Red hair |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Hypoglycemic seizures, Polyphagia, Red hair |
ORPHA:71526 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... |
OMIM:203200 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... |
ORPHA:895 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... |
ORPHA:2885 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Dysphagia, Bilateral tonic-clonic seizure, Hypopigmentation of the skin, Seizure, Bilateral tonic... |
ORPHA:98795 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... |
ORPHA:897 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... |
ORPHA:79433 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, Heterochromia ... |
ORPHA:894 |
Piebaldism |
|
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... |
ORPHA:2884 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... |
ORPHA:79435 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Angelman Syndrome Due To A Point Mutation |
|
Dysphagia, Hypopigmentation of the skin, Abnormal eating behavior, Seizure, Iris hypopigmentation... |
ORPHA:411511 |
Griscelli Syndrome Type 2 |
|
Partial albinism, Seizure, Iris hypopigmentation, Hypopigmentation of hair, Premature graying of ... |
ORPHA:79477 |
Oculocutaneous Albinism |
|
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... |
ORPHA:55 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... |
ORPHA:79432 |
Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology |
ORPHA:2221 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Dysphagia, Myoclonus, Hypopigmentation of the skin, Abnormal eating behavior, Seizure, Iris hypop... |
ORPHA:98794 |
Squalene Synthase Deficiency |
|
Seizure, Abnormality of hair pigmentation |
OMIM:618156 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Freckling, Albinism, Hypopigmentation of the skin, Melanocyt... |
ORPHA:79434 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Infertility, Polyphagia, Hypogonadotropic hypogonadism, Hypopigmentation of the skin, Hypogonadis... |
ORPHA:398079 |
Waardenburg Syndrome |
|
Hypopigmented skin patches, Abnormality of skin pigmentation, Abnormal eyebrow morphology, Hetero... |
ORPHA:3440 |
Ermine Phenotype |
|
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... |
ORPHA:999 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Infertility, Polyphagia, Hypogonadotropic hypogonadism, Bulimia, Hypopigmentation of the skin, Se... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Infertility, Polyphagia, Hypogonadotropic hypogonadism, Bulimia, Hypopigmentation of the skin, Se... |
ORPHA:98793 |
Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... |
ORPHA:79431 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Infertility, Polyphagia, Hypogonadotropic hypogonadism, Bulimia, Hypopigmentation of the skin, Se... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Infertility, Polyphagia, Hypogonadotropic hypogonadism, Bulimia, Hypopigmentation of the skin, Se... |
ORPHA:177901 |
Albinism, Oculocutaneous, Type Ia |
|
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of... |
OMIM:203100 |
Carney Complex, Type 1 |
|
Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair |
OMIM:160980 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmented skin patches, Freckling, Hyperpigmentation of the skin, Iris hypopigmentation, Mult... |
ORPHA:3214 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmented skin patches, Abnormal eyebrow morphology, Hypogonadism, Heterochromia iridis, Seiz... |
ORPHA:163746 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |