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 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
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Albinism |
OMIM:203340 |
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 |
Ethanolaminosis |
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Cardiomegaly |
OMIM:227150 |
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 |
White Forelock With Malformations |
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White forelock, Poliosis, Atrial septal defect |
OMIM:277740 |
Albinism, Oculocutaneous, Type Ib |
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Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
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 |
Woolly Hair |
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Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
Ermine Phenotype |
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Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo |
OMIM:227010 |
Hidrotic Ectodermal Dysplasia |
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Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... |
ORPHA:189 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
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Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
Griscelli Syndrome, Type 2 |
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Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... |
OMIM:607624 |
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 |
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 |
Cardiomyopathy, Dilated, 1I |
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Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Oculocerebral Syndrome With Hypopigmentation |
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Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Alopecia, Hypopigmentation of hair, Abnormal heart morphology |
ORPHA:1067 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
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Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
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Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:256710 |
Piebald Trait-Neurologic Defects Syndrome |
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Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... |
ORPHA:2885 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
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White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles |
OMIM:601706 |
Albinism, Oculocutaneous, Type Vi |
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Fair hair, Generalized hypopigmentation |
OMIM:113750 |
Piebald Trait With Neurologic Defects |
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White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Waardenburg Syndrome, Type 4A |
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Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:277580 |
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 |
Albinism-Deafness Syndrome |
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Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
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 |
Vogt-Koyanagi-Harada Disease |
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Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Hypopigmented skin pat... |
ORPHA:3437 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
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Cardiomegaly, Sparse hair |
OMIM:613576 |
Waardenburg Syndrome Type 1 |
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Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... |
ORPHA:894 |
Oculocutaneous Albinism |
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Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
Griscelli Syndrome Type 2 |
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Premature graying of hair, Iris hypopigmentation, Hypopigmentation of hair, Hepatomegaly, Partial... |
ORPHA:79477 |
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 |
Carney Complex, Type 1 |
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Profuse pigmented skin lesions, Multiple lentigines, Freckling, Cardiac myxoma, Hirsutism, Red hair |
OMIM:160980 |
Acquired Hypertrichosis Lanuginosa |
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Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Mucopolysaccharidosis, Type Iiib |
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Synophrys, Asymmetric septal hypertrophy, Hirsutism, Hepatomegaly, Coarse hair, Cardiomegaly, Spl... |
OMIM:252920 |
Oculocutaneous Albinism Type 1B |
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Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Oculocutaneous Albinism Type 1 |
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Generalized hypopigmentation, Generalized hypopigmentation of hair, Iris transillumination defect... |
ORPHA:352731 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair, Hepatomegaly, Splenome... |
OMIM:618541 |
Cardiomyopathy, Familial Hypertrophic, 27 |
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Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
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 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Hypertrophic cardiomyopathy, Hypopigmentation of hair, Abnormal heart morphology |
ORPHA:70472 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411515 |
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 |
Hermansky-Pudlak Syndrome 1 |
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Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... |
OMIM:203300 |
Albinism, Oculocutaneous, Type Ia |
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Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... |
OMIM:203100 |
Waardenburg Syndrome |
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Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... |
ORPHA:3440 |
Ataxia-Telangiectasia |
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Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair |
ORPHA:100 |
Waardenburg Syndrome, Type 4C |
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Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613266 |
Naxos Disease |
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Sparse body hair, Sparse eyebrow, Curly hair, Right ventricular cardiomyopathy, Abnormal morpholo... |
OMIM:601214 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Fair hair, Red hair, Blue irides |
OMIM:614613 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of hair, Freckling, Multiple ... |
ORPHA:3214 |
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, Bicuspid aortic valve |
OMIM:618156 |
Congenital Tricuspid Valve Dysplasia |
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Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
Classic Phenylketonuria |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Brittle Cornea Syndrome 1 |
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Red hair, Mitral valve prolapse |
OMIM:229200 |
Syndromic Diarrhea |
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Cafe-au-lait spot, Ventricular septal defect, Generalized hypopigmentation, Trichorrhexis nodosa,... |
ORPHA:84064 |
Hoyeraal-Hreidarsson Syndrome |
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Sparse scalp hair, Generalized hypopigmentation of hair, Premature graying of hair, Generalized h... |
ORPHA:3322 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98795 |
Chediak-Higashi Syndrome |
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Giant melanosomes in melanocytes, Hypopigmentation of the skin, Ocular albinism, Iris hypopigment... |
OMIM:214500 |
Hypohidrotic Ectodermal Dysplasia |
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Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized... |
ORPHA:238468 |
Angelman Syndrome Due To A Point Mutation |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411511 |
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 |
Koolen-De Vries Syndrome |
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Bicuspid aortic valve, Abnormality of hair texture, Hypopigmentation of hair, Abnormal cardiac se... |
ORPHA:96169 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Red hair |
OMIM:609734 |
Hermansky-Pudlak Syndrome |
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Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Iris hypopigmentation, Long eye... |
ORPHA:79430 |
Brittle Cornea Syndrome |
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Abnormality of hair pigmentation, Mitral valve prolapse, Pulmonic stenosis |
ORPHA:90354 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98794 |
Vici Syndrome |
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Hypopigmentation of the skin, Ocular albinism, Albinism, Left ventricular hypertrophy, Dilated ca... |
OMIM:242840 |
Chédiak-Higashi Syndrome |
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Hypopigmentation of the skin, Pericardial effusion, Iris hypopigmentation, Large clumps of pigmen... |
ORPHA:167 |
Prader-Willi Syndrome Due To Translocation |
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Patent foramen ovale, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of ha... |
ORPHA:177907 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair |
ORPHA:1974 |
Magel2-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin, Atrial septal defect |
ORPHA:398069 |
Prader-Willi Syndrome |
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Hypopigmentation of the skin, Generalized hypopigmentation, Frontal upsweep of hair, Iris hypopig... |
OMIM:176270 |
Degcags Syndrome |
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Patent foramen ovale, Hypopigmentation of the skin, Abnormal eyebrow morphology, Abnormality of s... |
OMIM:619488 |
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 Maternal Uniparental Disomy Of Chromosome 15 |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177901 |
Prader-Willi-Like Syndrome |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398073 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Menkes Disease |
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Hypopigmentation of hair, Sparse hair, Woolly hair |
ORPHA:565 |
Smith-Lemli-Opitz Syndrome |
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Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Hypopigmentation ... |
ORPHA:818 |
Cystinosis, Nephropathic |
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Pigmentary retinopathy, Hypopigmentation of the skin, Retinal pigment epithelial mottling, Hypopi... |
OMIM:219800 |
Acrodysostosis With Multiple Hormone Resistance |
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Fair hair, Red hair, Blue irides |
ORPHA:280651 |