Occipital Hair, White Lock Of |
|
White hair, Abnormal hair morphology |
OMIM:310900 |
Peeling Skin Syndrome 1 |
|
Onycholysis, Short stature, Brittle hair, Erythema, Abnormality of hair texture, Scaling skin |
OMIM:270300 |
Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
Oculotrichodysplasia |
|
Sparse eyelashes, Dry skin, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, General... |
OMIM:257960 |
Peeling Skin Syndrome 2 |
|
Scaling skin, Erythema |
OMIM:609796 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
Peeling Skin Syndrome 3 |
|
White scaling skin |
OMIM:616265 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Epidermal acanthosis |
OMIM:615735 |
Keratosis Palmoplantaris Striata Ii |
|
Epidermal acanthosis |
OMIM:612908 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Dry skin, Alopecia of scalp, Cutis laxa, Sparse eyebrow, Scaling ski... |
ORPHA:2269 |
Dowling-Degos Disease 4 |
|
Epidermal acanthosis |
OMIM:615696 |
Acrokeratosis Verruciformis |
|
Ridged nail, Epidermal acanthosis |
OMIM:101900 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Short stature |
ORPHA:90023 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Dry skin, Palmoplantar scaling skin, Erythema, Scaling skin, Concave nail |
ORPHA:530838 |
Hypotrichosis Simplex Of The Scalp |
|
Fine hair, Alopecia of scalp, Slow-growing scalp hair, Scaling skin, Sparse scalp hair, Epidermal... |
ORPHA:90368 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Epidermal acanthosis |
OMIM:615023 |
Acral Peeling Skin Syndrome |
|
Scaling skin, Excessive wrinkling of palmar skin, Hyperpigmentation of the skin, Erythema |
ORPHA:263534 |
Peeling Skin Syndrome 5 |
|
Epidermal acanthosis |
OMIM:617115 |
Hairy Elbows |
|
Elbow hypertrichosis, Short stature |
OMIM:139600 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Scaling skin, Erythema |
OMIM:617571 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Scaling skin, Sparse hair, Dystrophic fingernails |
OMIM:604536 |
Epidermolytic Hyperkeratosis |
|
Scaling skin, Epidermal acanthosis |
OMIM:113800 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:214450 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Scaling skin, Epidermal acanthosis, Onycholysis, Leukonychia |
OMIM:616295 |
Idiopathic Localized Lipodystrophy |
|
Scaling skin, Hyperpigmentation of the skin, Erythema, Hypopigmentation of the skin |
ORPHA:90158 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Epidermal acanthosis |
OMIM:615028 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Scaling skin, Dry skin, Cutis laxa |
OMIM:105250 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Hypopigmentation of hair, Albinism, Hypopigmentation of the skin, Pallor |
ORPHA:2786 |
Acral Self-Healing Collodion Baby |
|
Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Peeling Skin Syndrome 4 |
|
Scaling skin, Nail dystrophy, Epidermal acanthosis |
OMIM:607936 |
Palmoplantar Keratoderma, Nagashima Type |
|
Epidermal acanthosis |
OMIM:615598 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Nail dystrophy, Anonychia, Short stature, Epidermal acanthosis |
OMIM:616029 |
Psoriasis 2 |
|
Scaling skin, Epidermal acanthosis |
OMIM:602723 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
Cole Disease |
|
Epidermal acanthosis |
OMIM:615522 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Short stature, Generalized hyperpigmentation |
ORPHA:1355 |
Trichodysplasia-Xeroderma Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, D... |
ORPHA:3361 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Epidermal acanthosis, Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse ax... |
OMIM:613102 |
Verrucous Hemangioma |
|
Epidermal acanthosis |
ORPHA:464318 |
Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... |
ORPHA:189 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Erythema, Epidermal acanthosis |
OMIM:617526 |
Centrifugal Lipodystrophy |
|
Scaling skin, Alopecia, Erythema |
ORPHA:90156 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Bathing Suit Ichthyosis |
|
Nail dystrophy, Alopecia, Scaling skin, Sparse hair, Epidermal acanthosis |
ORPHA:100976 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
Familial Reactive Perforating Collagenosis |
|
Spotty hyperpigmentation, Abnormal epidermal morphology |
ORPHA:79147 |
Ermine Phenotype |
|
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow |
OMIM:227010 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Erythema, Epidermal acanthosis |
OMIM:617525 |
Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Scaling skin |
OMIM:612952 |
Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
Ichthyosis Vulgaris |
|
Dry skin, Absent keratohyalin granules |
OMIM:146700 |
Bazex Syndrome |
|
Lip hyperpigmentation, Yellow nails, Nail dystrophy, Scaling skin |
ORPHA:166113 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Sparse eyelashes, Absent hair, Ridged nail, Nail dystrophy, Sparse eyebrow, Absent eyebrow, Trich... |
ORPHA:1010 |
Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Dry skin, Erythema, Scaling skin, Growth delay |
OMIM:614457 |
Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... |
OMIM:613265 |
Trichodysplasia-Xeroderma |
|
Sparse eyelashes, Dry hair, Dry skin, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Spa... |
OMIM:190360 |
Urocanase Deficiency |
|
Blue irides, Short stature, Fair hair |
OMIM:276880 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:607624 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Nail dystrophy, Alopecia, Onychogryposis, Scaling skin on fingertip, Epidermal acanthosis |
ORPHA:79395 |
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy |
|
Highly arched eyebrow, Short stature, Sparse eyebrow, Sparse pubic hair, Scaling skin, Dry skin, ... |
OMIM:618419 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Severe postnatal growth retardation, Short stature, Coarse hair, Sparse eyebrow... |
ORPHA:35173 |
Cutaneous Mastocytoma |
|
Scaling skin, Hyperpigmentation of the skin, Erythema, Hypermelanotic macule |
ORPHA:79455 |
White Forelock With Malformations |
|
Poliosis, White forelock |
OMIM:277740 |
Waardenburg Syndrome, Type 2A |
|
Partial albinism, Albinism, White eyelashes, Heterochromia iridis, White forelock, White eyebrow,... |
OMIM:193510 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Scaling skin, Dry skin, Epidermal acanthosis |
OMIM:612281 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Short stature, Nail dystrophy, Alopecia, Absent eyebrow, Absent eyelashes, Nail dysplasia, Scalin... |
OMIM:308205 |
Skin Fragility-Woolly Hair Syndrome |
|
Sparse eyelashes, Acantholysis, Nail dystrophy, Alopecia, Nail dysplasia, Woolly hair, Sparse and... |
OMIM:607655 |
Vogt-Koyanagi-Harada Disease |
|
Hypopigmented skin patches, Poliosis, Short stature, Vitiligo, Abnormal eyebrow morphology, Spars... |
ORPHA:3437 |
White Sponge Nevus 2 |
|
Epidermal acanthosis |
OMIM:615785 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... |
ORPHA:895 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Epidermal acanthosis |
OMIM:618267 |
Oculocerebral Syndrome With Hypopigmentation |
|
Hypopigmentation of the skin, Growth delay, Silver-gray hair |
OMIM:257800 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... |
ORPHA:79433 |
Congenital Disorder Of Glycosylation, Type If |
|
Dry skin, Scaling skin |
OMIM:609180 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... |
OMIM:203200 |
Basan Syndrome |
|
Nail dystrophy, Hypermelanotic macule, Epidermal acanthosis |
OMIM:129200 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... |
ORPHA:2885 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Scaling skin, Psoriasiform lesion |
ORPHA:284426 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Small nail, Abnormal hair morphology, Growth delay, Thin nail, Erythema, Alopecia, Epidermal acan... |
OMIM:242100 |
Elastosis Perforans Serpiginosa |
|
Cutis laxa, Epidermal acanthosis |
ORPHA:79148 |
Acrokeratosis Verruciformis Of Hopf |
|
Nail dystrophy, Anonychia, Epidermal acanthosis, Leukonychia |
ORPHA:79151 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Short stature, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:177910 |
Elejalde Disease |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:256710 |
Pemphigus Foliaceus |
|
Scaling skin, Erythema, Acantholysis, Skin vesicle |
ORPHA:79481 |
Odontoonychodermal Dysplasia |
|
Fine hair, Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse body hair, Erythema, Spar... |
OMIM:257980 |
Atrophoderma Vermiculata |
|
Erythema, Abnormal epidermal morphology |
ORPHA:79100 |
Huriez Syndrome |
|
Nail dystrophy, Small nail, Epidermal acanthosis |
OMIM:181600 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Nail dystrophy, Alopecia, Nail dysplasia, Sparse hair, Epidermal acanthosis |
OMIM:242300 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Premature graying of hair, Generalized hy... |
ORPHA:33445 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles |
OMIM:601706 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Yellow nails, Nail dystrophy, Onycholysis, Epidermal acanthosis |
OMIM:148700 |
Olmsted Syndrome, X-Linked |
|
Alopecia totalis, Subungual hyperkeratosis, Epidermal acanthosis |
OMIM:300918 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, W... |
OMIM:277580 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Long eyelashes, Epidermal acanthosis |
OMIM:616069 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Chronic monilial nail infection, Erythema, Horizontal eyebrow, Slow-growing scalp hair, Onychogry... |
ORPHA:294023 |
Mal De Meleda |
|
Erythema, Epidermal acanthosis |
ORPHA:87503 |
Epidermolytic Palmoplantar Keratoderma |
|
Abnormal fingernail morphology, Epidermal acanthosis |
ORPHA:2199 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... |
ORPHA:897 |
Diffuse Cutaneous Mastocytosis |
|
Scaling skin, Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79456 |
Infantile Digital Fibromatosis |
|
Epidermal acanthosis |
ORPHA:199267 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Sparse eyelashes, Alopecia, Thick hair, Dry skin, Sparse hair, Epidermal acanthosis |
OMIM:607626 |
Rare Cutaneous Lupus Erythematosus |
|
Nail bed hemorrhage, Alopecia of scalp, Onycholysis, Psoriasiform lesion, Nail dystrophy, Erythem... |
ORPHA:535 |
Vulvovaginal Gingival Syndrome |
|
Ridged nail, Erythema, Epidermal acanthosis |
ORPHA:83453 |
Olmsted Syndrome 2 |
|
Alopecia universalis, Epidermal acanthosis, Sparse hair, Woolly hair |
OMIM:619208 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Scaling skin, Alopecia universalis, Patchy alopecia |
OMIM:606367 |
Piebaldism |
|
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... |
ORPHA:2884 |
Ermine Phenotype |
|
Hypopigmented skin patches, Ocular albinism, Short stature, Irregular hyperpigmentation, Iris hyp... |
ORPHA:999 |
Porphyria Cutanea Tarda |
|
Hypertrichosis, Hirsutism, Hyperpigmentation of the skin, Hypopigmentation of the skin, Scaling skin |
ORPHA:101330 |
Chronic Actinic Dermatitis |
|
Hypopigmented skin patches, Progressive hyperpigmentation, Epidermal acanthosis |
ORPHA:330064 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... |
ORPHA:79435 |
Mpdu1-Cdg |
|
Scaling skin |
ORPHA:79323 |
Piebald Trait |
|
Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... |
OMIM:172800 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Epidermal acanthosis |
OMIM:615022 |
Kid Syndrome |
|
Trichilemmoma, Sparse eyelashes, Nail dystrophy, Sparse eyebrow, Scarring alopecia of scalp, Post... |
ORPHA:477 |
Immunodeficiency 58 |
|
Scaling skin, Short stature, Psoriasiform lesion |
OMIM:618131 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, Heterochromia ... |
ORPHA:894 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Short stature, Nail dystrophy, Scaling skin, Alopecia universalis, Sparse hair |
ORPHA:158668 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Epidermal acanthosis |
OMIM:133200 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Delayed puberty, Growth delay, Hypopigmentation of the skin, Red hair |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Delayed puberty, Growth delay, Hypopigmentation of the skin, Red hair |
ORPHA:71526 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Psoriasiform lesion |
ORPHA:169154 |
Proteus Syndrome |
|
Epidermal acanthosis, Depigmentation/hyperpigmentation of skin |
OMIM:176920 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Epidermal acanthosis |
OMIM:148600 |
Oculocutaneous Albinism |
|
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... |
ORPHA:55 |
Ichthyosis Prematurity Syndrome |
|
Hyperpigmentation of the skin, Alopecia of scalp, Epidermal acanthosis |
OMIM:608649 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Abnormality of retinal pigmentation, Melanonychia, Abnormal hair morphology, Skin ulcer, Severe s... |
ORPHA:2526 |
Familial Benign Chronic Pemphigus |
|
Erythema, Acantholysis, Skin vesicle |
ORPHA:2841 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Intrauterine growth retardation, Mild short stature, Fair hair, Red hair |
OMIM:614613 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... |
OMIM:601375 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Short stature, Multiple lentigines, Vitiligo, Silver-gray hair |
ORPHA:101003 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Lack of skin elasticity, Growth delay, Hypopigmentation of the skin |
ORPHA:79254 |
Hoyeraal-Hreidarsson Syndrome |
|
Intrauterine growth retardation, Generalized hyperpigmentation, Short stature, Excessive wrinkled... |
ORPHA:3322 |
Ataxia-Telangiectasia |
|
Short stature, Multiple cafe-au-lait spots, Hypopigmentation of hair, Delayed puberty, Premature ... |
ORPHA:100 |
Griscelli Syndrome Type 2 |
|
Partial albinism, Petechiae, Iris hypopigmentation, Hypopigmentation of hair, Premature graying o... |
ORPHA:79477 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Erythema, Epidermal acanthosis |
OMIM:613943 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... |
ORPHA:79432 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Growth delay, Vitiligo, Psoriasiform lesion |
OMIM:614700 |
Riddle Syndrome |
|
Scaling skin, Erythema, Short stature |
ORPHA:420741 |
Bacterial Toxic-Shock Syndrome |
|
Ecchymosis, Scaling skin |
ORPHA:36234 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment... |
ORPHA:352731 |
Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology |
ORPHA:2221 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Freckling, Albinism, Hypopigmentation of the skin, Melanocyt... |
ORPHA:79434 |
Naxos Disease |
|
Acantholysis, Onycholysis, Nail dystrophy, Curly hair, Woolly hair, Sparse and thin eyebrow, Spar... |
OMIM:601214 |
Graft Versus Host Disease |
|
Scaling skin |
ORPHA:39812 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology |
ORPHA:398189 |
Woodhouse-Sakati Syndrome |
|
Growth delay, Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow, Delayed puberty |
ORPHA:3464 |
Squalene Synthase Deficiency |
|
Dry skin, Intrauterine growth retardation, Abnormality of hair pigmentation |
OMIM:618156 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:411515 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Psoriasis 14, Pustular |
|
Nail dystrophy, Erythema, Epidermal acanthosis |
OMIM:614204 |
Brittle Cornea Syndrome 1 |
|
Disproportionate tall stature, Palmoplantar cutis laxa, Red hair |
OMIM:229200 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Acantholysis, Alopecia totalis, Absent fingernail, Alopecia universalis, Anonychia |
OMIM:609638 |
Restrictive Dermopathy |
|
Aplasia/Hypoplastia of the eccrine sweat glands, Short nail, Intrauterine growth retardation, Spa... |
ORPHA:1662 |
Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... |
ORPHA:79431 |
Albinism, Oculocutaneous, Type Ia |
|
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of... |
OMIM:203100 |
Carney Complex, Type 1 |
|
Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair |
OMIM:160980 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Nail dystrophy, Epidermal acanthosis |
OMIM:615225 |
Waardenburg Syndrome |
|
Hypopigmented skin patches, Abnormality of skin pigmentation, Abnormal eyebrow morphology, Hetero... |
ORPHA:3440 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dry skin, Hirsutism, Cutis laxa, Thoracic hypertrichosis, Erythema, Long eyelashes, Horizontal ey... |
OMIM:619503 |
Rat-Bite Fever |
|
Scaling skin |
ORPHA:31205 |
Lethal Acantholytic Erosive Disorder |
|
Congenital alopecia totalis, Intrauterine growth retardation, Acantholysis, Absent hair, Absent t... |
ORPHA:158687 |
Superficial Epidermolytic Ichthyosis |
|
Erythema, Acantholysis |
ORPHA:455 |
Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:90307 |
Hypohidrotic Ectodermal Dysplasia |
|
Dry skin, Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexis nodosa, Irregular h... |
ORPHA:238468 |
Waardenburg Syndrome, Type 4C |
|
Blue irides, Hypopigmented skin patches, White eyelashes, White forelock, Heterochromia iridis, W... |
OMIM:613266 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Epidermal acanthosis |
OMIM:604777 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Dry skin, Growth delay, Epidermal acanthosis |
OMIM:617388 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Psoriasiform lesion, Onycholysis, Nail pits |
ORPHA:85436 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
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Growth delay, Sparse hair, Acantholysis |
OMIM:615508 |
Muenke Syndrome |
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Hypopigmented skin patches, Hypopigmentation of hair, Hypermelanotic macule |
ORPHA:53271 |
Darier-White Disease |
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Ridged nail, Subungual hyperkeratotic fragments, Hypermelanotic macule, Acantholysis |
OMIM:124200 |
Acrokeratoelastoidosis Of Costa |
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Epidermal acanthosis |
ORPHA:38 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Hypopigmented skin patches, Freckling, Hyperpigmentation of the skin, Iris hypopigmentation, Mult... |
ORPHA:3214 |
Syndromic Diarrhea |
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Intrauterine growth retardation, Short stature, Brittle hair, Trichorrhexis nodosa, Uncombable ha... |
ORPHA:84064 |
Punctate Palmoplantar Keratoderma Type 1 |
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Nail dystrophy, Abnormal epidermal morphology, Epidermal acanthosis |
ORPHA:79501 |
Koolen-De Vries Syndrome |
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Dry skin, Hypopigmentation of hair, Short stature, Abnormality of hair texture |
ORPHA:96169 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:98795 |
Angelman Syndrome Due To A Point Mutation |
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Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:411511 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Growth delay, Short stature, Ocular albinism, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:2719 |
Chediak-Higashi Syndrome |
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Silver-gray hair, Ocular albinism, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigme... |
OMIM:214500 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Dry hair, Short stature, Coarse hair, Widow's peak, Hypopigmentation of hair |
ORPHA:1974 |
Prader-Willi Syndrome |
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Short stature, Hypopigmentation of the skin, Delayed puberty, Iris hypopigmentation, Hypopigmenta... |
OMIM:176270 |
Vici Syndrome |
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Growth delay, Ocular albinism, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:242840 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:98794 |
Pseudoxanthoma Elasticum |
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Civatte bodies, Cutis laxa |
OMIM:264800 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Short stature, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Del... |
ORPHA:98754 |
Menkes Disease |
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Sparse hair, Intrauterine growth retardation, Woolly hair, Dry skin, Hypopigmentation of hair |
ORPHA:565 |
Hermansky-Pudlak Syndrome |
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Partial albinism, Ocular albinism, Long eyelashes, Hypopigmentation of the skin, Melanocytic nevu... |
ORPHA:79430 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Short stature, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Del... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Short stature, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Del... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Short stature, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Del... |
ORPHA:177901 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Epidermal acanthosis |
OMIM:612852 |
Magel2-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Short stature, Hypopigmentation of the skin |
ORPHA:398069 |
Prader-Willi Syndrome Due To Translocation |
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Intrauterine growth retardation, Short stature, Stellate iris, Hyperpigmentation of the skin, Hyp... |
ORPHA:177907 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Hypopigmentation o... |
ORPHA:163746 |
Prader-Willi-Like Syndrome |
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Short stature, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Del... |
ORPHA:398073 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Short stature, Hypopigmentation of the skin |
ORPHA:739 |
Brittle Cornea Syndrome |
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Abnormality of hair pigmentation |
ORPHA:90354 |
Acrodysostosis With Multiple Hormone Resistance |
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Blue irides, Intrauterine growth retardation, Mild short stature, Fair hair, Red hair |
ORPHA:280651 |
Sim1-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
Degcags Syndrome |
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Hypertrichosis, Intrauterine growth retardation, Low anterior hairline, Abnormality of skin pigme... |
OMIM:619488 |
Chédiak-Higashi Syndrome |
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Abnormality of retinal pigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Iris... |
ORPHA:167 |
Cystinosis, Nephropathic |
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Growth delay, Short stature, Retinal pigment epithelial mottling, Hypopigmentation of the skin, P... |
OMIM:219800 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Intrauterine growth retardation, Coarse hair, Postnatal growth retardation, Epidermal acanthosis |
ORPHA:83617 |
Smith-Lemli-Opitz Syndrome |
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Intrauterine growth retardation, Growth delay, Short stature, Rhizomelia, Hypopigmentation of hai... |
ORPHA:818 |