Griscelli Syndrome, Type 3 |
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Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Discoid Fibromas, Familial Multiple |
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Abnormal hair morphology |
OMIM:190340 |
Hairy Nose Tip |
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Abnormal hair morphology |
OMIM:139630 |
Ringed Hair |
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Abnormal hair morphology |
OMIM:180600 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
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Albinism |
OMIM:203340 |
Griscelli Syndrome, Type 1 |
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Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... |
OMIM:214450 |
Albinism, Oculocutaneous, Type Iii |
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Partial albinism, Albinism, Red hair |
OMIM:203290 |
Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Griscelli Syndrome Type 3 |
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Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Uncombable Hair Syndrome |
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Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Ringed Hair Disease |
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Abnormal hair pattern, Fine hair |
ORPHA:169 |
Tietz Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
Pili Bifurcati |
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Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Albinism, Oculocutaneous, Type Ib |
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Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
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Premature graying of hair |
OMIM:190200 |
Alopecia-Intellectual Disability Syndrome 1 |
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Alopecia universalis, Alopecia |
OMIM:203650 |
Alopecia, Androgenetic, 1 |
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Alopecia |
OMIM:109200 |
Waardenburg Syndrome, Type 2B |
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Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
Waardenburg Syndrome, Type 2F |
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Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... |
OMIM:619947 |
Woolly Hair |
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Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... |
ORPHA:170 |
Albinism, Oculocutaneous, Type Iv |
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Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
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White forelock, Macular hyperpigmented dermopathy |
ORPHA:2779 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
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Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Hidrotic Ectodermal Dysplasia |
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Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... |
ORPHA:189 |
Ermine Phenotype |
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Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... |
OMIM:227010 |
Waardenburg Syndrome, Type 4B |
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Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613265 |
White Forelock With Malformations |
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White forelock, Poliosis |
OMIM:277740 |
Woolly Hair, Autosomal Recessive 3 |
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Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair |
OMIM:616760 |
Uncombable Hair Syndrome 3 |
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Pili canaliculi, Brittle hair, Uncombable hair, Curly hair |
OMIM:617252 |
Griscelli Syndrome, Type 2 |
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Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:607624 |
Waardenburg Syndrome, Type 2A |
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Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... |
OMIM:193510 |
Hypotrichosis 8 |
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Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... |
OMIM:278150 |
Uncombable Hair Syndrome 1 |
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Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
Oculocutaneous Albinism, Type Viii |
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Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Oculocerebral Syndrome With Hypopigmentation |
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Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Waardenburg Syndrome Type 2 |
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Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... |
ORPHA:895 |
Piebald Trait With Neurologic Defects |
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White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Albinism, Oculocutaneous, Type Ii |
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Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... |
OMIM:203200 |
Oculocutaneous Albinism Type 3 |
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Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... |
ORPHA:79433 |
Woolly Hair Nevus |
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Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... |
ORPHA:79414 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
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Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:256710 |
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, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... |
ORPHA:2885 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
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White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation |
OMIM:601706 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4 |
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Premature graying of hair |
OMIM:616371 |
Albinism, Oculocutaneous, Type Vi |
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Fair hair, Generalized hypopigmentation |
OMIM:113750 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Waardenburg Syndrome, Type 4A |
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Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:277580 |
Piebald Trait |
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Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... |
OMIM:172800 |
Waardenburg-Shah Syndrome |
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Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... |
ORPHA:897 |
Albinism-Deafness Syndrome |
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Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism |
OMIM:300700 |
Neuroectodermal Melanolysosomal Disease |
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Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
Obesity And Hypopigmentation |
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Red hair |
OMIM:620195 |
Albinism-Deafness Syndrome |
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Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... |
ORPHA:998 |
Vogt-Koyanagi-Harada Disease |
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Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... |
ORPHA:3437 |
Piebaldism |
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Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... |
ORPHA:2884 |
Oculocutaneous Albinism Type 4 |
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Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... |
ORPHA:79435 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Waardenburg Syndrome Type 1 |
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Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... |
ORPHA:894 |
Griscelli Syndrome Type 1 |
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Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair |
ORPHA:79476 |
Reese Retinal Dysplasia |
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Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Methionine Malabsorption Syndrome |
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Blue irides, White hair |
OMIM:250900 |
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 hair, Hypopigmentation of the skin |
ORPHA:177910 |
Oculocutaneous Albinism Type 2 |
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Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
Oculocutaneous Albinism Type 1B |
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Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... |
ORPHA:79434 |
Acquired Hypertrichosis Lanuginosa |
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Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair |
ORPHA:2221 |
Oculocutaneous Albinism Type 1 |
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Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... |
ORPHA:352731 |
Ermine Phenotype |
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Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... |
ORPHA:999 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:411515 |
Griscelli Syndrome Type 2 |
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Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair |
ORPHA:79477 |
Oculocutaneous Albinism Type 1A |
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Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... |
ORPHA:79431 |
Obesity Due To Prohormone Convertase I Deficiency |
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Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Albinism, Oculocutaneous, Type Ia |
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White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... |
OMIM:203100 |
Cone-Rod Dystrophy 21 |
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Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Waardenburg Syndrome, Type 4C |
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Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613266 |
Waardenburg Syndrome |
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Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... |
ORPHA:3440 |
Ataxia-Telangiectasia |
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Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair |
ORPHA:100 |
Carney Complex, Type 1 |
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Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions |
OMIM:160980 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Fair hair, Red hair, Blue irides |
OMIM:614613 |
Hermansky-Pudlak Syndrome 1 |
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Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... |
OMIM:203300 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... |
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 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Hypopigmentation of hair |
ORPHA:70472 |
Muenke Syndrome |
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Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches |
ORPHA:53271 |
Classic Phenylketonuria |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Waardenburg Syndrome, Type 2E |
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Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Ocular albinism, Wh... |
OMIM:611584 |
Hoyeraal-Hreidarsson Syndrome |
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Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N... |
ORPHA:3322 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98795 |
Hypohidrotic Ectodermal Dysplasia |
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Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ... |
ORPHA:238468 |
Cone Rod Dystrophy |
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Abnormality of retinal pigmentation |
ORPHA:1872 |
Squalene Synthase Deficiency |
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Abnormality of hair pigmentation |
OMIM:618156 |
Angelman Syndrome Due To A Point Mutation |
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Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:411511 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Red hair |
OMIM:609734 |
Brittle Cornea Syndrome 1 |
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Red hair |
OMIM:229200 |
Chediak-Higashi Syndrome |
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Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Giant mel... |
OMIM:214500 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98794 |
Hermansky-Pudlak Syndrome |
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Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Long eyel... |
ORPHA:79430 |
Koolen-De Vries Syndrome |
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Abnormality of hair texture, Hypopigmentation of hair |
ORPHA:96169 |
Syndromic Diarrhea |
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Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Hypopigmentati... |
ORPHA:84064 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia... |
ORPHA:163746 |
Brittle Cornea Syndrome |
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Abnormality of hair pigmentation |
ORPHA:90354 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair |
ORPHA:1974 |
Sim1-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism |
ORPHA:2719 |
Prader-Willi Syndrome Due To Translocation |
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Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris... |
ORPHA:177907 |
Chédiak-Higashi Syndrome |
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Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Large clumps of pi... |
ORPHA:167 |
Magel2-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398069 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177904 |
Vici Syndrome |
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Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Ocular albinism |
OMIM:242840 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177901 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Degcags Syndrome |
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Hypopigmentation of the skin, Premature graying of hair, Hypertrichosis, Abnormal eyebrow morphol... |
OMIM:619488 |
Menkes Disease |
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Woolly hair, Hypopigmentation of hair, Sparse hair |
ORPHA:565 |
Smith-Lemli-Opitz Syndrome |
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Abnormal eyelash morphology, Hypopigmentation of hair |
ORPHA:818 |
Cystinosis, Nephropathic |
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Pigmentary retinopathy, Hypopigmentation of the skin, Retinal pigment epithelial mottling, Hypopi... |
OMIM:219800 |