Occipital Hair, White Lock Of |
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White hair, Abnormal hair morphology |
OMIM:310900 |
Griscelli Syndrome, Type 3 |
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Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
Graying Of Hair, Precocious |
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Premature graying of hair |
OMIM:139100 |
Loose Anagen Hair Syndrome |
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Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
Albinism, Oculocutaneous, Type Iii |
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Partial albinism, Albinism, Red hair |
OMIM:203290 |
Tietz Syndrome |
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Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
Griscelli Syndrome, Type 1 |
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Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:214450 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
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Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
Uncombable Hair Syndrome |
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Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
Griscelli Syndrome Type 3 |
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Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Myeloproliferative Syndrome, Transient |
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Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Hermansky-Pudlak Syndrome 3 |
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Hypopigmentation of hair, Abnormal number of dense granules, Hypopigmentation of the skin |
OMIM:614072 |
Dilution, Pigmentary |
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Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
Waardenburg Syndrome, Type 2B |
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Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
Griscelli Syndrome, Type 2 |
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Silver-gray hair, Hypopigmentation of the skin, Hepatosplenomegaly, Accumulation of melanosomes i... |
OMIM:607624 |
Thrombocytopenia 2 |
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Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Hidrotic Ectodermal Dysplasia |
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Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... |
ORPHA:189 |
Albinism, Oculocutaneous, Type Ib |
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Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Woolly Hair |
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Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
Neutrophil Immunodeficiency Syndrome |
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Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Ermine Phenotype |
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White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow |
OMIM:227010 |
Albinism, Oculocutaneous, Type Iv |
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Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
Hypotrichosis 8 |
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Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
Waardenburg Syndrome, Type 4B |
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Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... |
OMIM:613265 |
White Forelock With Malformations |
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Poliosis, White forelock |
OMIM:277740 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
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Leukocytosis, Anemia |
OMIM:619398 |
Waardenburg Syndrome, Type 2A |
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Partial albinism, Albinism, White eyelashes, Heterochromia iridis, White forelock, White eyebrow,... |
OMIM:193510 |
Eosinophilia, Familial |
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Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Oculocutaneous Albinism, Type Viii |
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Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Waardenburg Syndrome Type 2 |
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Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... |
ORPHA:895 |
Oculocutaneous Albinism Type 3 |
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Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... |
ORPHA:79433 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
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Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Albinism, Oculocutaneous, Type Ii |
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Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... |
OMIM:203200 |
Piebald Trait-Neurologic Defects Syndrome |
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Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... |
ORPHA:2885 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Elejalde Disease |
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Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:256710 |
Neuroectodermal Melanolysosomal Disease |
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Hypopigmentation of the skin, Hypopigmentation of hair, Premature graying of hair, Generalized hy... |
ORPHA:33445 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
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White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles |
OMIM:601706 |
Juvenile Temporal Arteritis |
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Leukocytosis, Eosinophilia |
ORPHA:26137 |
Waardenburg Syndrome, Type 4A |
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Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, W... |
OMIM:277580 |
Acute Myelomonocytic Leukemia |
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Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Griscelli Syndrome Type 2 |
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Partial albinism, Neutropenia, Splenomegaly, Iris hypopigmentation, Pancytopenia, Hypopigmentatio... |
ORPHA:79477 |
Waardenburg-Shah Syndrome |
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Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... |
ORPHA:897 |
Acquired Idiopathic Sideroblastic Anemia |
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Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Immunodeficiency 69 |
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Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
Piebaldism |
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Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... |
ORPHA:2884 |
Piebald Trait With Neurologic Defects |
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White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Chronic Myeloid Leukemia |
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Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Juvenile Arthritis |
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Thrombocytosis, Leukocytosis |
OMIM:618795 |
Oculocutaneous Albinism Type 4 |
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Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... |
ORPHA:79435 |
Piebald Trait |
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Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... |
OMIM:172800 |
Vogt-Koyanagi-Harada Disease |
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Hypopigmented skin patches, Poliosis, Vitiligo, Abnormal eyebrow morphology, Sparse scalp hair, A... |
ORPHA:3437 |
Waardenburg Syndrome Type 1 |
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Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, Heterochromia ... |
ORPHA:894 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Oculocutaneous Albinism |
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Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... |
ORPHA:55 |
Oculocerebral Syndrome With Hypopigmentation |
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Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
Polycythemia Vera |
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Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
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Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... |
OMIM:601375 |
Prader-Willi Syndrome Due To Imprinting Mutation |
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Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:177910 |
Oculocutaneous Albinism Type 2 |
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Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... |
ORPHA:79432 |
Chediak-Higashi Syndrome |
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Neutropenia, Silver-gray hair, Ocular albinism, Leukopenia, Abnormal dense granules, Giant neutro... |
OMIM:214500 |
Ataxia-Telangiectasia |
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Hypopigmentation of hair, Lymphopenia, Premature graying of hair, Multiple cafe-au-lait spots |
ORPHA:100 |
Oculocutaneous Albinism Type 1 |
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Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment... |
ORPHA:352731 |
Acquired Hypertrichosis Lanuginosa |
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Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology |
ORPHA:2221 |
Immunodeficiency 14B, Autosomal Recessive |
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Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Oculocutaneous Albinism Type 1B |
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Abnormality of retinal pigmentation, Freckling, Albinism, Hypopigmentation of the skin, Melanocyt... |
ORPHA:79434 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:411515 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Hoyeraal-Hreidarsson Syndrome |
|
Thrombocytopenia, Generalized hyperpigmentation, Nail dystrophy, Anemia, Generalized hypopigmenta... |
ORPHA:3322 |
Obesity Due To Prohormone Convertase I Deficiency |
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Hypopigmentation of the skin, Red hair |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Hypopigmentation of the skin, Red hair |
ORPHA:71526 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Ermine Phenotype |
|
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... |
ORPHA:999 |
Oculocutaneous Albinism Type 1A |
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Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... |
ORPHA:79431 |
Albinism, Oculocutaneous, Type Ia |
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Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of... |
OMIM:203100 |
Carney Complex, Type 1 |
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Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair |
OMIM:160980 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Blue irides, Fair hair, Red hair |
OMIM:614613 |
Waardenburg Syndrome |
|
Hypopigmented skin patches, Abnormality of skin pigmentation, Abnormal eyebrow morphology, Hetero... |
ORPHA:3440 |
Waardenburg Syndrome, Type 4C |
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Blue irides, Hypopigmented skin patches, White eyelashes, White forelock, Heterochromia iridis, W... |
OMIM:613266 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... |
OMIM:300908 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Fine hair, Leukocytosis, Hypoplastic nipples, Sparse hair, Abnormality... |
OMIM:308300 |
Muenke Syndrome |
|
Hypopigmented skin patches, Hypopigmentation of hair, Hypermelanotic macule |
ORPHA:53271 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Hypopigmented skin patches, Freckling, Hyperpigmentation of the skin, Iris hypopigmentation, Mult... |
ORPHA:3214 |
Chédiak-Higashi Syndrome |
|
Abnormal natural killer cell morphology, Abnormality of retinal pigmentation, Neutropenia, Thromb... |
ORPHA:167 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation |
OMIM:618156 |
Syndromic Diarrhea |
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Thrombocytosis, Increased mean platelet volume, Brittle hair, Hypoplasia of the thymus, Trichorrh... |
ORPHA:84064 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:98795 |
Hypohidrotic Ectodermal Dysplasia |
|
Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexis nodosa, Irregular hyperpigmen... |
ORPHA:238468 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:411511 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Hermansky-Pudlak Syndrome |
|
Partial albinism, Neutropenia, Ocular albinism, Long eyelashes, Hypopigmentation of the skin, Mel... |
ORPHA:79430 |
Vici Syndrome |
|
Ocular albinism, Albinism, Hypopigmentation of the skin, Decreased proportion of CD4-positive hel... |
OMIM:242840 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:98794 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmented skin patches, Abnormal eyebrow morphology, Splenomegaly, Heterochromia iridis, Hypo... |
ORPHA:163746 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Anemia, Iris hypopigmentation, Ocular albinism |
ORPHA:2719 |
Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Frontal upsweep of... |
OMIM:176270 |
Degcags Syndrome |
|
Hypertrichosis, Low anterior hairline, Leukopenia, Abnormality of skin pigmentation, Iron deficie... |
OMIM:619488 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair |
ORPHA:1974 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398069 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:177904 |
Prader-Willi Syndrome Due To Translocation |
|
Stellate iris, Hyperpigmentation of the skin, Hypopigmentation of the skin, Iris hypopigmentation... |
ORPHA:177907 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:177901 |
Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:398073 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Menkes Disease |
|
Hypopigmentation of hair, Sparse hair, Woolly hair |
ORPHA:565 |
Cystinosis, Nephropathic |
|
Retinal pigment epithelial mottling, Hypopigmentation of the skin, Splenomegaly, Pigmentary retin... |
OMIM:219800 |
Acrodysostosis With Multiple Hormone Resistance |
|
Blue irides, Fair hair, Red hair |
ORPHA:280651 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Abnormal eyelash morphology |
ORPHA:818 |