Griscelli Syndrome, Type 3 |
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Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Griscelli Syndrome, Type 1 |
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Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Albinism, Oculocutaneous, Type Iii |
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Red hair, Partial albinism, Albinism |
OMIM:203290 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
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Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
Tietz Syndrome |
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Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Erythrocytosis, Familial, 3 |
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Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 8 |
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Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Uncombable Hair Syndrome |
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Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Griscelli Syndrome, Type 2 |
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Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... |
OMIM:607624 |
Erythrocytosis, Familial, 7 |
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Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 4 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Griscelli Syndrome Type 3 |
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Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Hidrotic Ectodermal Dysplasia |
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Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Dilution, Pigmentary |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Waardenburg Syndrome, Type 2B |
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Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Waardenburg Syndrome, Type 2F |
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Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Albinism, Oculocutaneous, Type Ib |
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Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Woolly Hair |
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Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Polycythemia Vera |
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Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Albinism, Oculocutaneous, Type Iv |
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Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Ermine Phenotype |
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White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Hypotrichosis 8 |
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Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Waardenburg Syndrome, Type 4B |
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White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Waardenburg Syndrome, Type 2A |
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White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Erythrocytosis, Familial, 1 |
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Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Albinism, Oculocutaneous, Type Ii |
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Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
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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Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
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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Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Woolly Hair Nevus |
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Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Oculocutaneous Albinism Type 3 |
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White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Piebald Trait-Neurologic Defects Syndrome |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Hermansky-Pudlak Syndrome 3 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules, Albinism |
OMIM:614072 |
Neuroectodermal Melanolysosomal Disease |
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Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Griscelli Syndrome Type 2 |
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Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair... |
ORPHA:79477 |
Waardenburg-Shah Syndrome |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Waardenburg Syndrome, Type 4A |
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White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Abcd Syndrome |
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White eyelashes, Polycythemia, White eyebrow, Albinism |
OMIM:600501 |
Diamond-Blackfan Anemia 3 |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Erythrocytosis, Familial, 2 |
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Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Piebaldism |
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Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Waardenburg Syndrome Type 1 |
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Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Oculocutaneous Albinism Type 4 |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Hoyeraal-Hreidarsson Syndrome |
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Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Premature grayin... |
ORPHA:3322 |
Vogt-Koyanagi-Harada Disease |
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Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Dehydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Obesity And Hypopigmentation |
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Red hair |
OMIM:620195 |
Piebald Trait |
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Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Griscelli Syndrome |
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Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morphology, Splenomegal... |
ORPHA:381 |
Tempi Syndrome |
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Increased hematocrit, Polycythemia |
ORPHA:284227 |
Piebald Trait With Neurologic Defects |
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White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Chediak-Higashi Syndrome |
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Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Thrombocytopenia, Splenomega... |
OMIM:214500 |
Prader-Willi Syndrome Due To Imprinting Mutation |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Ataxia-Telangiectasia |
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Premature graying of hair, Hypopigmentation of hair, Lymphopenia, Multiple cafe-au-lait spots |
ORPHA:100 |
Oculocutaneous Albinism Type 2 |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Acquired Hypertrichosis Lanuginosa |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Oculocutaneous Albinism Type 1 |
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White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
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Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Premature graying of hair, Leukopen... |
OMIM:613989 |
Oculocutaneous Albinism Type 1B |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Polycythemia |
OMIM:250800 |
Hermansky-Pudlak Syndrome 11 |
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Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Iris transillumina... |
OMIM:619172 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
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 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Splenomegaly, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Ermine Phenotype |
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Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Oculocutaneous Albinism Type 1A |
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Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Waardenburg Syndrome |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Albinism, Oculocutaneous, Type Ia |
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Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Red hair, Fair hair, Blue irides |
OMIM:614613 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Hypopigmentation of hair |
ORPHA:70472 |
Carney Complex, Type 1 |
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Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Hermansky-Pudlak Syndrome 1 |
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Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Pancytopenia, Hypopigmentatio... |
ORPHA:167 |
Muenke Syndrome |
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Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Waardenburg Syndrome, Type 4C |
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White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Classic Phenylketonuria |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Lymphopenia, White hair, Anemia, Fine hair |
ORPHA:935 |
Syndromic Diarrhea |
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Hypopigmentation of hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair... |
ORPHA:84064 |
Squalene Synthase Deficiency |
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Abnormality of hair pigmentation |
OMIM:618156 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Hypohidrotic Ectodermal Dysplasia |
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Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
Angelman Syndrome Due To A Point Mutation |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Hermansky-Pudlak Syndrome |
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Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, N... |
ORPHA:79430 |
Brittle Cornea Syndrome 1 |
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Red hair |
OMIM:229200 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Hypopigmentation of hair, Ocular albinism, Anemia, Iris hypopigmentation |
ORPHA:2719 |
Gaisböck Syndrome |
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Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... |
ORPHA:90041 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Red hair |
OMIM:609734 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Vici Syndrome |
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Hypopigmentation of hair, Albinism, Ocular albinism, Leukopenia, T lymphocytopenia, Neutropenia, ... |
OMIM:242840 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Splenomegaly, Hypopigmented skin patches, ... |
ORPHA:163746 |
Koolen-De Vries Syndrome |
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Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Degcags Syndrome |
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Abnormal eyebrow morphology, Pancytopenia, Hypopigmentation of hair, Congenital hypoplastic anemi... |
OMIM:619488 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... |
OMIM:176270 |
Brittle Cornea Syndrome |
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Abnormality of hair pigmentation |
ORPHA:90354 |
Sim1-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Prader-Willi Syndrome Due To Translocation |
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Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... |
ORPHA:177907 |
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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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177901 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Menkes Disease |
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Sparse hair, Woolly hair, Hypopigmentation of hair |
ORPHA:565 |
Cystinosis, Nephropathic |
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Hypopigmentation of hair, Splenomegaly, Retinal pigment epithelial mottling, Pigmentary retinopat... |
OMIM:219800 |
Smith-Lemli-Opitz Syndrome |
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Abnormal eyelash morphology, Hypopigmentation of hair |
ORPHA:818 |
Retinitis Pigmentosa 84 |
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Bone spicule pigmentation of the retina |
OMIM:618220 |
Retinitis Pigmentosa |
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Abnormality of retinal pigmentation |
ORPHA:791 |