Griscelli Syndrome, Type 3 |
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Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Griscelli Syndrome, Type 1 |
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Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
Albinism, Oculocutaneous, Type Iii |
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Albinism, Red hair, Partial albinism |
OMIM:203290 |
Tietz Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... |
ORPHA:42665 |
Uncombable Hair Syndrome |
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Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Griscelli Syndrome Type 3 |
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Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Waardenburg Syndrome, Type 2B |
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White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
Dilution, Pigmentary |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:126070 |
Waardenburg Syndrome, Type 2F |
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Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... |
OMIM:619947 |
Albinism, Oculocutaneous, Type Ib |
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Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Ermine Phenotype |
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Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo |
OMIM:227010 |
Woolly Hair |
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Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
Hidrotic Ectodermal Dysplasia |
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Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... |
ORPHA:189 |
Albinism, Oculocutaneous, Type Iv |
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Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
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Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Hypotrichosis 8 |
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Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
Waardenburg Syndrome, Type 4B |
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Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613265 |
Griscelli Syndrome, Type 2 |
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Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:607624 |
Waardenburg Syndrome, Type 2A |
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Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... |
OMIM:193510 |
Oculocutaneous Albinism, Type Viii |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
Woolly Hair Nevus |
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Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
Waardenburg Syndrome Type 2 |
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Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... |
ORPHA:895 |
Albinism, Oculocutaneous, Type Ii |
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Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
Oculocutaneous Albinism Type 3 |
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Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
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Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Piebald Trait-Neurologic Defects Syndrome |
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Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... |
ORPHA:2885 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
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Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:256710 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Piebald Trait With Neurologic Defects |
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White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Neuroectodermal Melanolysosomal Disease |
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Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
Waardenburg-Shah Syndrome |
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Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... |
ORPHA:897 |
Piebald Trait |
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Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... |
OMIM:172800 |
Piebaldism |
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Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... |
ORPHA:2884 |
Oculocutaneous Albinism Type 4 |
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Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... |
ORPHA:79435 |
Waardenburg Syndrome Type 1 |
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Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... |
ORPHA:894 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Oculocutaneous Albinism |
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Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
Hermansky-Pudlak Syndrome 3 |
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Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Prader-Willi Syndrome Due To Imprinting Mutation |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177910 |
Oculocutaneous Albinism Type 2 |
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Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
Acquired Hypertrichosis Lanuginosa |
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Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Oculocutaneous Albinism Type 1B |
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Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Ermine Phenotype |
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Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... |
ORPHA:999 |
Oculocutaneous Albinism Type 1A |
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Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... |
ORPHA:79431 |
Albinism, Oculocutaneous, Type Ia |
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Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... |
OMIM:203100 |
Griscelli Syndrome Type 2 |
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Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair |
ORPHA:79477 |
Carney Complex, Type 1 |
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Profuse pigmented skin lesions, Multiple lentigines, Freckling, Hirsutism, Red hair |
OMIM:160980 |
Waardenburg Syndrome |
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Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... |
ORPHA:3440 |
Waardenburg Syndrome, Type 4C |
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Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613266 |
Hermansky-Pudlak Syndrome 1 |
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Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... |
OMIM:203300 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of hair, Freckling, Multiple ... |
ORPHA:3214 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot |
OMIM:618541 |
Muenke Syndrome |
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Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches |
ORPHA:53271 |
Squalene Synthase Deficiency |
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Abnormality of hair pigmentation |
OMIM:618156 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Premature graying of hair, Hypopigmented skin patches, Hypopigmentat... |
ORPHA:163746 |
Brittle Cornea Syndrome |
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Abnormality of hair pigmentation |
ORPHA:90354 |
Weaver Syndrome |
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Hypoplastic toenails, Fine hair, Deep-set nails, Abnormal fingernail morphology, Thin nail |
ORPHA:3447 |
Cohen-Gibson Syndrome |
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Small nail, Melanocytic nevus, Thin nail |
OMIM:617561 |