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 |
Cramps, Familial Adolescent |
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Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
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Elevated circulating creatine kinase concentration |
OMIM:158400 |
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 |
Book Syndrome |
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Premature graying of hair |
OMIM:112300 |
Griscelli Syndrome Type 3 |
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Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Uncombable Hair Syndrome |
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Abnormal hair morphology, White hair, Coarse hair, 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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Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Pili Bifurcati |
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Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Pentosuria |
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Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Waardenburg Syndrome, Type 2B |
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Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Dilution, Pigmentary |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Mosaic Variegated Aneuploidy Syndrome 4 |
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Abnormality of chromosome stability |
OMIM:620153 |
Fraxf Syndrome |
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Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Ermine Phenotype |
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White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Albinism, Oculocutaneous, Type Ib |
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Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Alopecia, Congenital |
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Sparse hair, Alopecia |
OMIM:300042 |
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, Alopecia universalis |
OMIM:203650 |
Alopecia, Androgenetic, 1 |
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Alopecia |
OMIM:109200 |
Waardenburg Syndrome, Type 2F |
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Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Woolly Hair |
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Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
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Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Albinism, Oculocutaneous, Type Iv |
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Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
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Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
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Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Hypotrichosis 8 |
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Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Hidrotic Ectodermal Dysplasia |
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Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Waardenburg Syndrome, Type 4B |
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White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
White Forelock With Malformations |
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White forelock, Poliosis |
OMIM:277740 |
Woolly Hair, Autosomal Recessive 3 |
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Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Uncombable Hair Syndrome 3 |
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Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Griscelli Syndrome, Type 2 |
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Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
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Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias |
ORPHA:1355 |
Waardenburg Syndrome, Type 2A |
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White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Oculocutaneous Albinism, Type Viii |
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Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Uncombable Hair Syndrome 1 |
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Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Woolly Hair Nevus |
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Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... |
ORPHA:79414 |
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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Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Piebald Trait With Neurologic Defects |
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White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Oculocutaneous Albinism Type 3 |
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White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Albinism, Oculocutaneous, Type Ii |
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Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Albinism-Deafness Syndrome |
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Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
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Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Piebald Trait-Neurologic Defects Syndrome |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
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Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
Albinism, Oculocutaneous, Type Vi |
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Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Waardenburg Syndrome, Type 4A |
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White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Piebald Trait |
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Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Prader-Willi Syndrome Due To Imprinting Mutation |
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Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Hypopigment... |
ORPHA:177910 |
Waardenburg-Shah Syndrome |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Neuroectodermal Melanolysosomal Disease |
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Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Albinism-Deafness Syndrome |
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Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Obesity And Hypopigmentation |
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Red hair |
OMIM:620195 |
Piebaldism |
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Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Vogt-Koyanagi-Harada Disease |
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Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Oculocutaneous Albinism Type 4 |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
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Abnormality of chromosome stability |
OMIM:600546 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Waardenburg Syndrome, Type 4C |
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White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur... |
OMIM:613266 |
Waardenburg Syndrome Type 1 |
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Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Griscelli Syndrome Type 1 |
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Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation |
ORPHA:79476 |
Acquired Hypertrichosis Lanuginosa |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Ovarian neoplasm, Generalized h... |
ORPHA:2221 |
Methionine Malabsorption Syndrome |
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White hair, Blue irides |
OMIM:250900 |
Obesity Due To Prohormone Convertase I Deficiency |
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Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... |
ORPHA:71526 |
Hermansky-Pudlak Syndrome 3 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Oculocutaneous Albinism Type 2 |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Carney Complex, Type 1 |
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Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Multiple ... |
OMIM:160980 |
Scleroderma, Familial Progressive |
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Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Oculocutaneous Albinism Type 1B |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Oculocutaneous Albinism Type 1 |
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White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Ataxia-Telangiectasia |
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Hypopigmentation of hair, Polycystic ovaries, Premature graying of hair, Multiple cafe-au-lait sp... |
ORPHA:100 |
Waardenburg Syndrome |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Hypospadias, Cryptorchidism, Blue irides, Red hair, Fair hair |
OMIM:614613 |
Ermine Phenotype |
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Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Oculocutaneous Albinism Type 1A |
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Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Albinism, Oculocutaneous, Type Ia |
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Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Griscelli Syndrome Type 2 |
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Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Abnormal reproductive system morphology, Hypopigmentation of hair |
ORPHA:70472 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... |
OMIM:609734 |
Squalene Synthase Deficiency |
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Bilateral cryptorchidism, Hypospadias, Abnormality of hair pigmentation |
OMIM:618156 |
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 |
Sim1-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplas... |
ORPHA:398079 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Muenke Syndrome |
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Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Waardenburg Syndrome, Type 2E |
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White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
Classic Phenylketonuria |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Hypohidrotic Ectodermal Dysplasia |
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Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
Hoyeraal-Hreidarsson Syndrome |
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Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... |
ORPHA:3322 |
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 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, Anterior pituitary hypopl... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, Anterior pituitary hypopl... |
ORPHA:98793 |
Magel2-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Small scrotum, External genital hypoplasia, Precocious puberty, Cryptor... |
ORPHA:398069 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, Anterior pituitary hypopl... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, Anterior pituitary hypopl... |
ORPHA:177901 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Small scrotum, Decreased response to growth hormone stimulation test, E... |
ORPHA:739 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, Decreased response to gro... |
OMIM:176270 |
Angelman Syndrome Due To A Point Mutation |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Brittle Cornea Syndrome 1 |
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Red hair |
OMIM:229200 |
Koolen-De Vries Syndrome |
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Cryptorchidism, Hypopigmentation of hair, Hypospadias, Abnormality of hair texture |
ORPHA:96169 |
Chediak-Higashi Syndrome |
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Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... |
OMIM:214500 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Dry hair, Hypopigmentation of hair, Widow's peak, Coarse hair, Shawl scrotum |
ORPHA:1974 |
Syndromic Diarrhea |
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Hypopigmentation of hair, Brittle hair, Hypoplasia of the thymus, Uncombable hair, Woolly hair, C... |
ORPHA:84064 |
Hermansky-Pudlak Syndrome |
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Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H... |
ORPHA:79430 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Cryptorchidism, Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation |
ORPHA:2719 |
Prader-Willi Syndrome Due To Translocation |
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Hypopigmentation of hair, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased... |
ORPHA:177907 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
Vici Syndrome |
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Hypopigmentation of hair, Albinism, Ocular albinism, Penile hypospadias, Hypopigmentation of the ... |
OMIM:242840 |
Chédiak-Higashi Syndrome |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... |
ORPHA:167 |
Degcags Syndrome |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Hypospadias, Abnormal eyelash morphology, ... |
OMIM:619488 |
Smith-Lemli-Opitz Syndrome |
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Hypoplasia of penis, Hypopigmentation of hair, Hypospadias, Abnormal eyelash morphology, Cryptorc... |
ORPHA:818 |
Menkes Disease |
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Sparse hair, Woolly hair, Hypopigmentation of hair |
ORPHA:565 |
Cystinosis, Nephropathic |
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Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigmentary retinopathy, Male hypog... |
OMIM:219800 |