| Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
| Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
| Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Follicular hyperkeratosis, Sparse hair,... |
OMIM:607903 |
| Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair, Perifollicular hy... |
ORPHA:505 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Allergic rhinitis, Absent facial h... |
ORPHA:90368 |
| Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy... |
OMIM:300918 |
| Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hyperkerat... |
OMIM:602400 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Palmoplantar keratoderm... |
OMIM:618535 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Generalized keratosis follicula... |
ORPHA:2890 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... |
OMIM:617294 |
| Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
| Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
| Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
| Candidiasis, Familial, 1 |
|
Alopecia, Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... |
OMIM:129500 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
| Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections, Edema, Abnormal hair morphology |
ORPHA:345 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infecti... |
OMIM:256500 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Keratitis, Scarring alopecia of scalp, Folliculitis, ... |
OMIM:612843 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Folliculitis, Dystrophic... |
OMIM:308800 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
| Thumb Deformity And Alopecia |
|
Alopecia, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Scarring alopecia of scalp... |
OMIM:602540 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
| Kerion Celsi |
|
Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ... |
ORPHA:499 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s... |
OMIM:617337 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Parakeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyp... |
ORPHA:79395 |
| Book Syndrome |
|
Premature graying of hair |
OMIM:112300 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy |
OMIM:616487 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, H... |
OMIM:615508 |
| Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
| Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
| Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I... |
ORPHA:79503 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia |
ORPHA:79129 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital ichthyosiform erythr... |
OMIM:242300 |
| Peeling Skin Syndrome 1 |
|
Brittle hair, Pruritus, Increased circulating IgE level, Onycholysis, Nail dystrophy, Erythroderma |
OMIM:270300 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
| Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
| Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Conjunctivitis, Blepharitis, Abnormality of the nail |
ORPHA:254478 |
| Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Congenital bullous ich... |
OMIM:607602 |
| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pustule, Pruritus, Thickened skin, Ichthyosis, Palmoplantar ker... |
ORPHA:2897 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Increased circulating IgE level, Hyperkeratosis, Nail dystrophy, Abnormal toenail morph... |
ORPHA:89843 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Congenital Ichthyosiform Erythroderma |
|
Alopecia, Keratitis, Pruritus, Ichthyosis, Palmoplantar keratoderma, Erythroderma, Abnormality of... |
ORPHA:79394 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Sparse body hair, Pili torti, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti |
ORPHA:1573 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosi... |
OMIM:173200 |
| Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Abnormal hair morphology,... |
ORPHA:634 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... |
OMIM:615023 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
| Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:2297 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
| Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
| Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, E... |
OMIM:608649 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... |
OMIM:612281 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Paronychia, Increased circulating IgE level, Erythroderma, Blepharitis, Onychogryposis |
OMIM:614328 |
| Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno... |
ORPHA:248 |
| Anonychia With Flexural Pigmentation |
|
Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia |
ORPHA:69125 |
| Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
| Bathing Suit Ichthyosis |
|
Alopecia, Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis, Ichthyosis, Nail dystrophy,... |
ORPHA:100976 |
| Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis |
OMIM:607936 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
| Ichthyosis With Confetti |
|
Pruritus, Hypertrichosis, Palmoplantar hyperkeratosis, Ichthyosis, Hypoplastic nipples, Congenita... |
OMIM:609165 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Plantar hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hype... |
OMIM:144200 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni... |
ORPHA:1008 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Increased circulating IgE l... |
OMIM:618282 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Pruritus, Orthokeratosis, ... |
OMIM:607626 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Ifap Syndrome 2 |
|
Ichthyosis follicularis, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctiviti... |
OMIM:619016 |
| Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation |
OMIM:620199 |
| Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... |
OMIM:619208 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Genital edema, Eczema, Abnormal immunoglobulin level, Increased circulating IgE level, Chronic mu... |
ORPHA:98813 |
| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Pruritus, Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis |
ORPHA:737 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... |
OMIM:604777 |
| Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Patchy ... |
ORPHA:346 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis |
OMIM:146750 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
| Peeling Skin Syndrome 6 |
|
Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis |
OMIM:618084 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma |
OMIM:133200 |
| Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern... |
ORPHA:79147 |
| Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
| Lamellar Ichthyosis |
|
Pruritus, Dehydration, Ichthyosis, Hyperkeratosis, Sparse hair, Erythroderma, Chronic otitis medi... |
ORPHA:313 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair |
ORPHA:1883 |
| Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
| Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
| Hairy Elbows |
|
Elbow hypertrichosis |
OMIM:139600 |
| Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
| Bjornstad Syndrome |
|
Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular int... |
OMIM:262000 |
| Flotch Syndrome |
|
Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Inflammat... |
ORPHA:2045 |
| Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Edema, Sparse eyebrow, Recurrent pneumonia, Nasolacrimal duct ... |
OMIM:604173 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Short nail, Thin nail, Hypergra... |
OMIM:257980 |
| Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule |
ORPHA:464318 |
| Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
| Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Pustule, Increased circulating IgE level, Recurrent pneumonia, Dehydration, Long ... |
OMIM:616069 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow, Downslanted palpebral fissures |
OMIM:617392 |
| Linear Atrophoderma Of Moulin |
|
Pruritus, Scleroderma, Inflammatory abnormality of the skin |
ORPHA:140933 |
| Sézary Syndrome |
|
Alopecia, Edema, Abnormal immunoglobulin level, Pruritus, Palmoplantar keratoderma, Nail dystroph... |
ORPHA:3162 |
| Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Fine hair, Hyperkeratosis, Keratoconjunctivitis sicca, Fragile nails... |
OMIM:601675 |
| Acrokeratosis Verruciformis |
|
Ridged nail, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Acrokeratosis |
OMIM:101900 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Ichthyosis, Alopecia, Erythroderma |
OMIM:618840 |
| Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
| Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Edema, Abnormal eyelid morphology, Pruritus, Hyperkeratosis, Abnorma... |
ORPHA:2584 |
| Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Generalized hirsutism |
ORPHA:2812 |
| Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
| Ulerythema Ophryogenesis |
|
Acne, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermatitis, Sparse lateral eyebrow |
ORPHA:3406 |
| Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
| Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocyte physiology, Pustule, Chronic mu... |
OMIM:613953 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi... |
ORPHA:89838 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Irregular hyperpigmentation of back, Abnormal eyelash morphology, Melanocytic nevus, Sparse hair,... |
ORPHA:1818 |
| Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
| Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair |
OMIM:190200 |
| Erosive Pustular Dermatosis Of The Scalp |
|
Pustule, Scarring alopecia of scalp, Abnormal hair morphology |
ORPHA:222 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Reticulated skin ... |
ORPHA:79397 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
| Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia... |
OMIM:106260 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair, Palmoplantar keratoderma |
OMIM:610476 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Congenital bullous ichthyosif... |
ORPHA:312 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
| Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Hyperpigmentation in sun-exposed areas, Onycholysis |
OMIM:176100 |
| Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... |
ORPHA:477 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis... |
OMIM:617638 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Keratoconj... |
OMIM:234050 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Nail dysplasia, Sc... |
OMIM:212360 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Upslanted palpebral fissure, Alopecia, Epicanthus, Brittle hair |
ORPHA:50812 |
| Ectodermal Dysplasia 5, Hair/Nail Type |
|
Sparse scalp hair, Dystrophic fingernails, Absent toenail |
OMIM:614927 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Hypohidrosis, Dystrophic fingernails, Dys... |
ORPHA:1882 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Ichthyosis, Palmoplantar keratoderma, Hypergranulosis, Erythroderma |
OMIM:615022 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Anhidrosis, Dystrophic toenail |
OMIM:619209 |
| Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia |
ORPHA:2574 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Sparse hair, Nail dystrophy, Recurre... |
OMIM:618625 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
| Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Chronic hepatitis, Colitis, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexi... |
OMIM:614602 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
| Chilblain Lupus 2 |
|
Chilblains |
OMIM:614415 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Skin rash, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Hyperkeratosis... |
ORPHA:317 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse... |
ORPHA:2251 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
| Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Hyperkeratosis, Onycholysis, Ptery... |
ORPHA:525 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Slow-growing hair, Ichthyosis |
OMIM:616943 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis |
ORPHA:79399 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse... |
OMIM:129490 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Abnormal eyelid morphology, Pustule, Paronych... |
ORPHA:37 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis |
OMIM:613943 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair |
ORPHA:401911 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
| Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... |
ORPHA:79153 |
| Aquagenic Palmoplantar Keratoderma |
|
Edema, Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmar pruritus |
ORPHA:498359 |
| Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
| Epidermolysis Bullosa, Junctional 5A, Intermediate |
|
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... |
OMIM:619816 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Ichthyosis, Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Sparse hair, Fragil... |
OMIM:242150 |
| Trichothiodystrophy 3, Photosensitive |
|
Brittle hair, Increased circulating IgA level, Congenital ichthyosiform erythroderma, Congenital ... |
OMIM:616395 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati... |
OMIM:618982 |
| Dermoodontodysplasia |
|
Thin skin, Nail dysplasia, Trichodysplasia |
OMIM:125640 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Sparse hair |
OMIM:275400 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Psoriasiform dermatitis, Blepharitis, Ichthyosis |
OMIM:616834 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Multiple eyelid margin cysts, Hyperkeratosis, Palmop... |
OMIM:224750 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
| Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, I... |
OMIM:615821 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Chronic decreased circulating IgG1, Reduced hair... |
OMIM:300953 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:620148 |
| Acrokeratoelastoidosis Of Costa |
|
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
| Epidermolytic Hyperkeratosis 1 |
|
Palmoplantar hyperkeratosis, Erythroderma |
OMIM:113800 |
| Progeroid Syndrome, Petty Type |
|
Epicanthus, Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in ir... |
ORPHA:2963 |
| Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Widow's peak, Atopic dermatitis, Sparse hair, Thick eyebrow, Ptosis |
OMIM:606242 |
| Immunodeficiency 25 |
|
Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Increased ... |
OMIM:610163 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Alopecia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Dec... |
OMIM:616576 |
| White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey... |
ORPHA:294023 |
| Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Palmopl... |
OMIM:167210 |
| Copper Deficiency, Familial Benign |
|
Curly hair, Early balding, Seborrheic dermatitis |
OMIM:121270 |
| Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
| Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Hyperkeratosis, Increased ci... |
ORPHA:90280 |
| Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Bifid ... |
ORPHA:1433 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor... |
ORPHA:494 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Increased circulating IgA level, Increased circulating IgE level, Increased circulating... |
ORPHA:169154 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Chronic oral candidiasis, Psoriasiform dermatitis, Decreased lymphocyte proliferation in response... |
OMIM:606367 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
| Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Upslanted palpebral fissure, Coarse hair, Nail dystrophy |
ORPHA:75389 |
| Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Increased circulating IgE level, Recurrent pneum... |
ORPHA:277 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal fingernail morphology, Abnormality of skin pigmentation, Thin skin, Sparse hair, Sparse ... |
ORPHA:1810 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutaneous candidiasi... |
OMIM:147060 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
| Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen... |
ORPHA:79133 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... |
ORPHA:2228 |
| Severe Combined Immunodeficiency, X-Linked |
|
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinem... |
OMIM:300400 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... |
OMIM:601952 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Glomerulonephritis, Eczema, Increased circulating IgE level, Hepatitis, Arthritis, Eryt... |
OMIM:304790 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
| Dermoodontodysplasia |
|
Sparse scalp hair, Melanocytic nevus, Thin skin, Fingernail dysplasia, Trichodysplasia, Toenail d... |
ORPHA:1660 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otitis media |
OMIM:618523 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Palmoplantar keratoderma,... |
ORPHA:3353 |
| Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Alopecia of scalp |
OMIM:136300 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... |
OMIM:617241 |
| Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin, Patchy alopecia |
OMIM:247100 |
| Naxos Disease |
|
Sparse scalp hair, Curly hair, Abnormality of hair texture, Hyperhidrosis, Woolly hair |
ORPHA:34217 |
| Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Hypertrichosis |
OMIM:617524 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, ... |
OMIM:619752 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilic infiltration of the esophagus, Increased circulating IgE level, Recurrent pn... |
OMIM:243700 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
| Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma |
ORPHA:330064 |
| Harlequin Ichthyosis |
|
Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis, Erythroderma, Ect... |
ORPHA:457 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
| Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy |
OMIM:619692 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Erysipelas |
OMIM:615704 |
| Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
| Atopic Keratoconjunctivitis |
|
Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, B... |
ORPHA:163934 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... |
OMIM:613102 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
| Systemic Lupus Erythematosus 17 |
|
Alopecia, Optic neuritis, Decreased circulating complement C3 concentration, Decreased circulatin... |
OMIM:301080 |
| Bazex Syndrome |
|
Parakeratosis, Edema, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dyst... |
ORPHA:166113 |
| Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No... |
ORPHA:87503 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Epicanthus, Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow |
OMIM:617412 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... |
ORPHA:217390 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
| Porphyria Cutanea Tarda, Type I |
|
Eczema, Hypertrichosis |
OMIM:176090 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Absent eyebrow, Sparse scalp hair, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
| Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Fair hair |
OMIM:618808 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Omenn Syndrome |
|
Alopecia, Pneumonia, Edema, Pruritus, Thickened skin, Thyroiditis, Erythroderma, Aplasia/Hypoplas... |
ORPHA:39041 |
| Bazex-Dupre-Christol Syndrome |
|
Eczema, Trichorrhexis nodosa, Atopic dermatitis, Coarse hair, Sparse hair, Trichoepithelioma, Pil... |
OMIM:301845 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair |
ORPHA:2985 |
| Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
ORPHA:454 |
| Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding |
OMIM:616390 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Hyperkeratosis, Congenital ichthy... |
OMIM:242100 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Pruritus, Abnormal hair morphology, Paronychia, Increased circu... |
ORPHA:2314 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
| Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
| Cardiofaciocutaneous Syndrome |
|
Epicanthus, Brittle hair, Slow-growing hair, Lymphedema, Abnormal eyelash morphology, Low posteri... |
ORPHA:1340 |
| Darier Disease |
|
Acrokeratosis, Pruritus, Abnormal hair morphology, Thickened skin, Palmoplantar keratoderma, Abno... |
ORPHA:218 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Pigmentary retinopathy, Alopecia, Long eyelashes |
ORPHA:3363 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Deep dermatophytosis, Increased circulating IgE level, Chronic oral candidiasis |
OMIM:212050 |
| Coffin-Siris Syndrome 8 |
|
Ptosis, Sparse scalp hair, Eczema, Long eyelashes, Thick eyebrow, Hypertrichosis |
OMIM:618362 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis, Eczema, Impaired ADP-induced platelet aggregation, Impaired pl... |
OMIM:617443 |
| Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Decreased circulating IgG level, Crohn's disease, Increased ... |
OMIM:615767 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Pal... |
OMIM:605676 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:309400 |
| Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
| Eec Syndrome |
|
Entropion, Slow-growing hair, Sparse eyebrow, Keratitis, Xerostomia, Nail pits, Fine hair, Hyperk... |
ORPHA:1896 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Orthokera... |
ORPHA:79501 |
| Pachyonychia Congenita |
|
Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp... |
ORPHA:2309 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes |
OMIM:227260 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Patchy alopecia, Nail dystrophy, Fragile nails, Palmar hyperhidrosis |
OMIM:226650 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Trichothiodystrophy |
|
Ridged nail, Congenital exfoliative erythroderma, Epicanthus, Brittle hair, Sparse scalp hair, Ec... |
ORPHA:33364 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform eryt... |
OMIM:617571 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Leuko... |
OMIM:616295 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Ichthyosis, ... |
ORPHA:35173 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Epicanthus, Brittle hair, Dry hair, Upslanted palpebral fissure, Nail dystrophy |
ORPHA:93947 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop... |
OMIM:148700 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... |
ORPHA:79481 |
| Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... |
ORPHA:79151 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Epidermolytic Palmoplantar Keratoderma |
|
Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar h... |
ORPHA:2199 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifor... |
OMIM:613576 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Increased circ... |
ORPHA:169160 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Abnormality of retinal pigmentation, Sparse hair |
ORPHA:1264 |
| Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Long eyelashes, ... |
ORPHA:3051 |
| Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp... |
ORPHA:2200 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair |
ORPHA:85274 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Nonimmune hydrops fetalis, Edema, Pruritus, Scarring alopeci... |
ORPHA:95159 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b... |
ORPHA:79402 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Erythroderma |
ORPHA:280785 |
| Leukonychia Totalis |
|
Abnormal eyelash morphology, Abnormal fingernail morphology, Blepharitis, Abnormal toenail morpho... |
ORPHA:2387 |
| Lipoid Proteinosis |
|
Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp |
ORPHA:530 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Ichthyosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Brittle hair, Polyhydramnios |
OMIM:618810 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... |
ORPHA:555905 |
| Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:1006 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Thickened skin... |
ORPHA:2221 |
| Nail Disorder, Nonsyndromic Congenital, 3 |
|
Abnormal hair morphology, Leukonychia, Concave nail |
OMIM:151600 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Sparse eyelashes, Eczema, Absent nipple, Concave nail, Absent eyela... |
OMIM:305100 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
| Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Ab... |
ORPHA:69085 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm... |
ORPHA:2273 |
| Noonan Syndrome 8 |
|
Curly hair, Epicanthus, Eczema, Polyhydramnios, Hyperkeratosis, Pleural effusion, Downslanted pal... |
OMIM:615355 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis,... |
OMIM:610768 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:617988 |
| Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
| Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Decreased circulat... |
OMIM:615577 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
| Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Hyperkeratosis, Alopecia, Fine hair |
ORPHA:1839 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
| Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Entropion, Keratitis, Thickened skin, Ankyloblepharon, Hyp... |
ORPHA:910 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Generalized ichthyosis, Absent ax... |
ORPHA:2269 |
| Alpha-Heavy Chain Disease |
|
Alopecia, Ascites, Dysgammaglobulinemia |
ORPHA:100025 |
| Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Nail dystrophy, Atopic dermatitis, Pneumonia |
OMIM:618806 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles |
OMIM:601706 |
| Immunodeficiency 85 And Autoimmunity |
|
Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased circulating IgE, Erythroderma,... |
OMIM:619510 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Coarse hair, Brittle hair, Downslanted palpebral fissures, Abnormality of hair texture |
OMIM:219200 |
| Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog... |
ORPHA:1775 |
| Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
ORPHA:337 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections |
OMIM:614372 |
| Pachydermoperiostosis |
|
Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Edema, Seborrheic de... |
ORPHA:2796 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... |
OMIM:604536 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Parakeratosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Small nail, Ortho... |
OMIM:308050 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis |
ORPHA:1366 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Recurrent p... |
ORPHA:47 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G... |
ORPHA:37042 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis nodosa, Xerostomia, H... |
ORPHA:238468 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Sparse scalp hair, Alopecia, Predominantly lower limb lymphedema, Palpebral edema... |
ORPHA:69735 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Epicanthus, Highly arched eyebrow, Long eyelashes, Chronic otitis media, Blepharitis |
ORPHA:261279 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Sea-Blue Histiocytosis |
|
Blepharitis, Edema |
ORPHA:158029 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... |
OMIM:158310 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
| Centrifugal Lipodystrophy |
|
Alopecia, Lymphadenitis, Inflammatory abnormality of the skin |
ORPHA:90156 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair, Pancreatitis |
OMIM:236200 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... |
OMIM:607823 |
| Milroy Disease |
|
Epicanthus, Predominantly lower limb lymphedema, Lymphedema, Toenail dysplasia, Pedal edema, Hype... |
ORPHA:79452 |
| Immunodeficiency 53 |
|
Recurrent otitis media, Recurrent pneumonia, Skin rash |
OMIM:617585 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Dermatitis, Atopic |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Conjunctivitis... |
OMIM:603165 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Sparse eyelashes, Lacrimal duct stenosis, Sparse axillary hair, Sparse eyebrow... |
OMIM:604292 |
| Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Recurrent bacterial skin infections, Plantar hyperkeratosis, Angular cheilitis, Hyperconvex nail,... |
ORPHA:495 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia |
OMIM:203550 |
| Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Abs... |
OMIM:148210 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Epicanthus, Membranoproliferative glomerulonephritis, Sparse eyelashes, Palpebral... |
OMIM:137940 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair, Palmoplantar keratoderma |
OMIM:611528 |
| Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Alopecia, Eczema, Keratoconjunctivitis |
ORPHA:79242 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp |
OMIM:618373 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Edema, Polyhydramnios, Sparse eyebrow, Congenital ichthyosiform erythroderma, P... |
OMIM:302960 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly |
OMIM:613977 |
| Darier-White Disease |
|
Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments |
OMIM:124200 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Eczema, Sparse eyebrow, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:619691 |
| Spinocerebellar Ataxia 34 |
|
Epidermal hyperkeratosis, Erythroderma |
OMIM:133190 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Telecanthus, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Dacryocys... |
OMIM:129900 |
| Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Abnormal ... |
ORPHA:678 |
| Congenital Short Bowel Syndrome |
|
Sparse hair |
ORPHA:2301 |
| Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... |
OMIM:618131 |
| Lymphatic Malformation 4 |
|
Hyperkeratosis, Toenail dysplasia, Pedal edema, Lymphedema |
OMIM:615907 |
| Omenn Syndrome |
|
Thickened skin, Alopecia, Pneumonia, Erythroderma |
OMIM:603554 |
| Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Ichthyosis |
ORPHA:1954 |
| Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
| Vulvovaginal Gingival Syndrome |
|
Pruritus, Ridged nail, Parakeratosis, Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Lymp... |
OMIM:300291 |
| Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
| Oculodentodigital Dysplasia |
|
Curly hair, Epicanthus, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hai... |
ORPHA:2710 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis |
OMIM:609638 |
| Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Nail dystrophy, Atrichia, Hy... |
ORPHA:1867 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Hypoplastic toenails, Ab... |
ORPHA:2930 |
| Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Polyhydramnios, Decreased circulating antibody level, Fine hair, Sparse... |
OMIM:222470 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Dermatopathia Pigmentosa Reticularis |
|
Abnormal conjunctiva morphology, Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis |
OMIM:125595 |
| Naxos Disease |
|
Curly hair, Subungual hyperkeratosis, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... |
OMIM:601214 |
| Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis |
ORPHA:79148 |
| Immunodeficiency 50 |
|
Eczema, Decreased circulating antibody level |
OMIM:300988 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Epicanthus, Sparse body hair, Ichthyosis |
ORPHA:177 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Hyperkeratosis, Ichthyosis, Eczema, Hypertrichosis |
OMIM:612379 |
| Lessel-Kubisch Syndrome |
|
Sparse pubic hair, Premature graying of hair |
OMIM:618681 |
| Biotinidase Deficiency |
|
Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis |
OMIM:253260 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Increased circulating IgE level, Otitis media, Alopecia of scalp, Panhypogammaglobulin... |
OMIM:602450 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia, Reduced natural killer cell activity, Arthritis, Membranous nephropathy, Absent isohema... |
OMIM:615559 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Keratitis, Uveitis, Fine ha... |
OMIM:308300 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
| Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Curly hair, Polyhydramnios, Palmoplant... |
OMIM:615280 |
| Superficial Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Edema, Acantholysis |
ORPHA:455 |
| Leopard Syndrome 3 |
|
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Palpebral thickenin... |
OMIM:613707 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Telecanthus, Eczema, Ichthyosis |
ORPHA:3055 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia, Hypopigmented skin patches |
ORPHA:3143 |
| Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Chilblain Lupus 1 |
|
Chilblains, Abnormality of the nail |
OMIM:610448 |
| Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Nail dystrophy |
OMIM:614204 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
| Pgm3-Cdg |
|
Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Increased cir... |
ORPHA:443811 |
| Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit... |
ORPHA:897 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Acne, Hirsutism |
OMIM:612847 |
| Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
| Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Abnormality of retinal pigmentation, Sparse body hair |
ORPHA:1897 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Abnormality of skin pigmentation, Alopecia, Nail dystrophy |
OMIM:616353 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:608612 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Pruritus, Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis |
ORPHA:158681 |
| Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Nonimmune hydrops fetalis, Edema, Pruritus, Scarring alopeci... |
ORPHA:79277 |
| Xq27.3Q28 Duplication Syndrome |
|
Sparse body hair |
ORPHA:261483 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Atopic dermati... |
ORPHA:530838 |
| Atrophoderma Vermiculata |
|
Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... |
OMIM:308230 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Abnormal hair morphology, Acne |
ORPHA:3000 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Hypopigmented skin patches,... |
ORPHA:1807 |
| Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Acantholysis, Absent eyelashes, Oligohydramnios, Absent toenail, Absent fingernai... |
ORPHA:158687 |
| Hypomelanosis Of Ito |
|
Macular hypopigmented whorls, streaks, and patches, Alopecia |
OMIM:300337 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
| Hypotrichosis 3 |
|
Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor... |
OMIM:613981 |
| Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Acantholysis |
ORPHA:704 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Upslanted palpebral fissure, Alopecia, Ichthyosis |
OMIM:215100 |
| Fg Syndrome 3 |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
| Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Hypopigmentation of the skin, Thin skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on bre... |
ORPHA:64745 |
| Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dacryocystitis, Increased circulating IgE level, ... |
ORPHA:1163 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608636 |
| Lymphatic Malformation 3 |
|
Recurrent skin infections, Lymphedema |
OMIM:613480 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Melanocytic ... |
ORPHA:978 |
| Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis |
OMIM:602723 |
| Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
| Immunodeficiency 23 |
|
Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Increased circulating IgE le... |
OMIM:615816 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Reduced isohemagglutinin level, Conjunctivitis, Chronic decrease... |
OMIM:613493 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Fine hair, Hyperkeratosis, Keratoconjunctivitis sicca, Sparse hair |
ORPHA:1806 |
| Onychotrichodysplasia And Neutropenia |
|
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... |
OMIM:258360 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Nail dystrophy, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:167200 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d... |
OMIM:615726 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Low posterior hairline |
ORPHA:2183 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis |
ORPHA:1028 |
| Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Gastritis, Colitis, Uncombable hair, Woolly hair, Panhypo... |
ORPHA:84064 |
| Dowling-Degos Disease |
|
Abnormal fingernail morphology, Pruritus, Arthritis, Hyperkeratosis, Hyperkeratotic papule, Acne ... |
ORPHA:79145 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair, Decreased circulating antibody level |
OMIM:616084 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
| Igg4-Related Aortitis |
|
Increased inflammatory response, Increased circulating IgG4 level, Increased circulating IgE leve... |
ORPHA:449400 |
| Immunodeficiency 104 |
|
Pneumonia, Eczema, Chronic mucocutaneous candidiasis, Otitis media, Recurrent otitis media |
OMIM:608971 |
| Argininosuccinic Aciduria |
|
Trichorrhexis nodosa, Dry hair, Brittle hair, Cerebral edema |
OMIM:207900 |
| Ramon Syndrome |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:3019 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... |
OMIM:102700 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Epicanthus, Bilateral ptosis, Synophrys, Upslanted palpebral fissure, Coarse hair, Ol... |
OMIM:616351 |
| Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Generalized Pustular Psoriasis |
|
Pustule, Cheilitis, Uveitis, Pedal edema, Arthritis, Palmoplantar pustulosis, Erythroderma, Abnor... |
ORPHA:247353 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
| Prolidase Deficiency |
|
Abnormal fingernail morphology, Pruritus, Crusting erythematous dermatitis, Low anterior hairline... |
ORPHA:742 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Pleural effusion, Increased circulating IgE level, Atopic dermatitis |
ORPHA:2902 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Acne, Hirsutism |
OMIM:615830 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating I... |
OMIM:619824 |
| Albinism-Deafness Syndrome |
|
Patchy hypo- and hyperpigmentation, Piebaldism, Partial albinism, Albinism |
OMIM:300700 |
| Rapp-Hodgkin Syndrome |
|
Absent lacrimal punctum, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebro... |
OMIM:129400 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair |
ORPHA:59303 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Melanocytic nevus |
OMIM:612079 |
| Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Erythroderma |
OMIM:609180 |
| Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
| Immunodeficiency 66 |
|
Pustule, Defective T cell proliferation, Recurrent skin infections |
OMIM:618847 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis |
OMIM:162700 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
| Complement Component 5 Deficiency |
|
Decreased circulating complement C5 concentration, Reduced hemolytic complement activity, General... |
OMIM:609536 |
| Epidermodysplasia Verruciformis |
|
Pustule, Recurrent skin infections, Seborrheic dermatitis |
ORPHA:302 |
| Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis |
OMIM:600705 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Sparse pubic hair, Sparse axillary hair |
OMIM:146110 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na... |
ORPHA:540 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia, Eyelid coloboma, Orbital cyst |
OMIM:164180 |
| Phenylketonuria |
|
Scleroderma, Fair hair, Eczema |
OMIM:261600 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis, Bitot spots of the conjunctiva |
OMIM:277350 |
| Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Recurrent loss of toenails and fingernails, Crusting erythematous dermatitis, Palmoplantar hyperk... |
ORPHA:158673 |
| Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Premature graying of hai... |
OMIM:305000 |
| Sulfite Oxidase Deficiency, Isolated |
|
Eczema, Fine hair |
OMIM:272300 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Epicanthus, Synophrys, Increased nuchal translucency, Upslanted palpebral fissure, Blepharitis, F... |
ORPHA:280633 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... |
OMIM:608106 |
| Griscelli Syndrome Type 1 |
|
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation |
ORPHA:79476 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Myocarditis, Angioedema, Hepatitis, Thyroiditis, Tubulointerstitial nephritis... |
ORPHA:139402 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Alopecia, Skin rash, Edema, Discoid lupus rash, Pericardial effusion, Arthritis, Ascite... |
ORPHA:93552 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis, Osteomyelitis |
OMIM:615632 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Central Precocious Puberty In Male |
|
Acne, Abnormality of secondary sexual hair |
ORPHA:649929 |
| Chanarin-Dorfman Syndrome |
|
Alopecia, Congenital nonbullous ichthyosiform erythroderma, Ectropion |
OMIM:275630 |
| Noonan Syndrome 6 |
|
Curly hair, Epicanthus, Long eyebrows, Edema, Polyhydramnios, Bilateral ptosis, Low posterior hai... |
OMIM:613224 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:616819 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Recurrent pneumonia, Bronchiectasis, Hyperkera... |
OMIM:301220 |
| Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Leukonychia, Palmoplantar hyperkeratosis |
ORPHA:2698 |
| Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Keratitis, Pruritus, Hyperparakeratosis, ... |
ORPHA:182 |
| Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Malar rash, Papuloves... |
ORPHA:330058 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair |
OMIM:619184 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Dystrophic fingernails, ... |
ORPHA:3253 |
| Idiopathic Localized Lipodystrophy |
|
Pruritus, Scleroderma, Inflammatory abnormality of the skin, Morphea |
ORPHA:90158 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Decreased circulating antibody leve... |
OMIM:300635 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke... |
ORPHA:158668 |
| Monosomy 22 |
|
Epicanthus, Seborrheic dermatitis, Thickened skin, Synophrys, Narrow palpebral fissure, Joint swe... |
ORPHA:96123 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Epicanthus, Widow's peak, Fine hair, Upslanted palpebral fissure, Horizontal eyebrow |
OMIM:615828 |
| Urban-Rogers-Meyer Syndrome |
|
Upslanted palpebral fissure, Epicanthus, Increased circulating IgE level |
ORPHA:3409 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair |
OMIM:273390 |
| Moebius Syndrome |
|
Breast aplasia, Epicanthus, Blepharitis, Ptosis |
ORPHA:570 |
| Tularemia |
|
Skin rash, Pneumonia, Erythema nodosum, Pleural effusion, Conjunctivitis, Increased circulating a... |
ORPHA:3392 |
| Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pustule, Pruritus, Facial edema, Chei... |
ORPHA:293173 |
| Lelis Syndrome |
|
Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Nail dystrophy, Sparse hair, Vi... |
ORPHA:140936 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Curly hair |
OMIM:615279 |
| Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
| Orofaciodigital Syndrome Type 1 |
|
Epicanthus, Brittle hair, Telecanthus, Alopecia, Coarse hair, Sparse hair, Chronic otitis media, ... |
ORPHA:2750 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Telecanthus, Fine hair, Upslanted palpebral fissure, Oligohydramnios |
ORPHA:228390 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Upslanted palpebral fissure, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail ... |
ORPHA:1005 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Palpebral edema, Cholangitis, Increased circulating IgG4 level, Abnormal eyelid morpho... |
ORPHA:449563 |
| Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Colitis, Decreased circulati... |
OMIM:618394 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
| Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
| Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans |
ORPHA:409 |
| Mixed Connective Tissue Disease |
|
Myositis, Pericarditis, Skin rash, Gastritis, Alopecia, Myocarditis, Xerostomia, Arthritis, Kerat... |
ORPHA:809 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Ptosis, Thickened skin, Acne, Seborrheic dermatitis |
OMIM:167100 |
| Chronic Mucocutaneous Candidiasis |
|
Skin rash, Abnormal fingernail morphology, Pruritus, Cheilitis, Hepatitis, Broad nail, Hyperkerat... |
ORPHA:1334 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
| Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Absent eyebrow, Alopecia, Sparse scalp hair, Recurrent skin infections, ... |
OMIM:308205 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Blepharophimosis, Epicanthus, Fine hair, Ptosis |
ORPHA:3236 |
| Prolidase Deficiency |
|
Eczema, Recurrent pneumonia, Crusting erythematous dermatitis, Low posterior hairline, Increased ... |
OMIM:170100 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Thickened skin, Acne, Seborrheic dermatitis |
OMIM:614441 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... |
ORPHA:69126 |
| Insulin Autoimmune Syndrome |
|
Acanthosis nigricans, Arthralgia/arthritis, Increased circulating antibody level |
ORPHA:411593 |
| Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
| Acrogeria |
|
Irregular hyperpigmentation, Fine hair |
ORPHA:2500 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Myositis, Skin rash, Increased circulating IgA level, Pustule, Inc... |
OMIM:615934 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Sparse hair, Brittle hair, Fine hair |
OMIM:618891 |
| Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Thickened skin, Palmoplantar keratoderma, Sparse hair |
ORPHA:659 |
| Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Telecanthus, Eczema, Synophrys, Sparse hair, Blepharophimosis, Thick eyebrow |
OMIM:611091 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctivitis, Recurre... |
OMIM:612692 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Self-injurious behavior, Parakeratosis, Agitation |
OMIM:618339 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Eczema, Reduced natural killer cell activity |
OMIM:614493 |
| Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis |
OMIM:119580 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Hyperhidrosis, High anterior hairline, Long eyelashes, Fine hair |
ORPHA:231137 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Keratitis, Arthritis, Inflammation of the large intestine, Conjunctivitis, Abn... |
ORPHA:906 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Panhypogammaglobulinemia, Erythema nodosum |
OMIM:615214 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Inflammation of the large intestine, Colonic eosinophilia, Blepha... |
OMIM:617718 |
| Psoriasis 1, Susceptibility To |
|
Psoriasiform dermatitis, Nail pits, Arthritis, Onycholysis, Onychomadesis |
OMIM:177900 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Mogs-Cdg |
|
Generalized edema, Pulmonary edema, Alopecia, Fair hair, Edema, Polyhydramnios, Hirsutism, Decrea... |
ORPHA:79330 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation of the large intestine,... |
ORPHA:29207 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
| Ameloonychohypohidrotic Syndrome |
|
Onycholysis, Seborrheic dermatitis |
OMIM:104570 |
| Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
| Diffuse Cutaneous Mastocytosis |
|
Pruritus, Thickened skin, Peau d'orange, Erythroderma |
ORPHA:79456 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Small nail, Aggressive behavior |
OMIM:619470 |
| Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Epicanthus, Upslanted palpebral fissure, Thin eyebrow |
ORPHA:3242 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Alopecia, Iridocyclitis, Chronic mucocutaneous cand... |
OMIM:240300 |
| Transketolase Deficiency |
|
Seborrheic dermatitis, Uveitis, Self-injurious behavior, Conjunctivitis, Attention deficit hypera... |
ORPHA:488618 |
| Mucolipidosis Ii Alpha/Beta |
|
Epicanthus, Brittle hair, Palpebral edema, Sparse eyebrow, Recurrent pneumonia, Sparse hair, Recu... |
OMIM:252500 |
| Proteus Syndrome |
|
Limbal dermoid, Hyperkeratosis, Downslanted palpebral fissures, Ptosis |
OMIM:176920 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Anonychia, Nail dystrophy, Palmoplantar keratoderma |
OMIM:616029 |
| Pemphigus Erythematosus |
|
Malar rash, Acantholysis |
ORPHA:79480 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Chronic rhinitis |
OMIM:615225 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology, Chronic mucocutaneous candidiasis |
ORPHA:3453 |
| Craniofrontonasal Dysplasia |
|
Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair... |
ORPHA:1520 |
| Costello Syndrome |
|
Deep-set nails, Epicanthus, Abnormal fingernail morphology, Polyhydramnios, Concave nail, Abnorma... |
ORPHA:3071 |
| Weaver Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Fine hair, Downs... |
ORPHA:3447 |
| Sjögren-Larsson Syndrome |
|
Hyperkeratosis, Inflammatory abnormality of the eye, Ichthyosis |
ORPHA:816 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Epicanthus |
ORPHA:88630 |
| Trichinellosis |
|
Skin rash, Edema, Facial edema, Periorbital edema, Increased circulating IgE level, Conjunctiviti... |
ORPHA:863 |
| Familial Benign Copper Deficiency |
|
Early balding, Acne |
ORPHA:1551 |
| Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Acantholysis |
ORPHA:2841 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... |
OMIM:300755 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Narrow palpebral fissure, Small nail, Oligohydramnios |
OMIM:614219 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Lymphadenitis, Inflammation of the large intestine, Nail dystrophy, Erythroderma, Ptosis |
OMIM:615895 |
| Marshall-Smith Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Aspiration pneumonia, Shallow orbits, Sparse hair... |
OMIM:602535 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
OMIM:607812 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Hypohidrosis, Sparse hair |
ORPHA:2316 |
| Leopard Syndrome 2 |
|
Curly hair, Cafe-au-lait spot, Multiple lentigines |
OMIM:611554 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Seborrheic dermatitis |
OMIM:210210 |
| Filippi Syndrome |
|
Sparse hair, Frontal hirsutism, Hypertrichosis |
OMIM:272440 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Seborrheic dermatitis, Palmoplantar hyperkeratosis, Arthritis, Eczematoid dermatitis, Ptosis |
OMIM:259100 |
| Kury-Isidor Syndrome |
|
Ptosis, Alopecia, Recurrent otitis media, Downslanted palpebral fissures, Hypertrichosis |
OMIM:619762 |
| Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Epicanthus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis, Eczema, Sebor... |
ORPHA:83617 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Increased cir... |
OMIM:617388 |
| Androgen Insensitivity Syndrome |
|
Sparse pubic hair, Absent facial hair, Sparse axillary hair |
OMIM:300068 |
| Autosomal Agammaglobulinemia |
|
Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepat... |
ORPHA:33110 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia |
OMIM:619773 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic... |
OMIM:614941 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Recurrent otitis media, Pili torti, Trichorrhexis nodosa, Sp... |
OMIM:261990 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Sparse eyebrow |
OMIM:619989 |
| Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, Glomerulonephritis, Increased circulating IgA level, Increased circulating IgE level, ... |
ORPHA:3261 |
| Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
| Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
| Thrombocytopenia 1 |
|
Increased circulating IgE level, Eczema, Increased circulating IgA level |
OMIM:313900 |
| Dracunculiasis |
|
Pruritus, Recurrent cutaneous abscess formation, Skin rash, Arthritis |
ORPHA:231 |
| Immunodeficiency 22 |
|
Pericarditis, Decreased circulating total IgM, Ascites, Panniculitis, Decreased circulating IgE, ... |
OMIM:615758 |
| Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusiti... |
OMIM:240500 |
| Noonan Syndrome 5 |
|
Curly hair, Epicanthus, Polyhydramnios, Sparse eyebrow, Fine hair, Small nail, Downslanted palpeb... |
OMIM:611553 |
| Monosomy 18P |
|
Alopecia, Epicanthus, Lymphedema, Low posterior hairline, Ptosis |
ORPHA:1598 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Skin rash |
OMIM:619175 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism |
OMIM:619150 |
| Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Acne, Frontal balding, Synophrys, Facial hirsutism, High anterior hairline, Hirsutism |
ORPHA:247768 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Skin rash, Low posterior hairline, Long eyelashes, Downslanted palpebral fissures, Ptosis |
OMIM:617523 |
| Keutel Syndrome |
|
Recurrent otitis media, Alopecia, Recurrent sinusitis |
ORPHA:85202 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Facial edema, Periorbital edema, Increased circula... |
ORPHA:449432 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Pedal edema, Increased circulating IgG level, Tubulointerstitial nephritis, Cholec... |
ORPHA:449395 |
| Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Bilateral ptosis, Decreased circulating total IgM, Nail dystrophy, De... |
OMIM:620040 |
| Macs Syndrome |
|
Epicanthus, Alopecia, Palpebral edema, Sparse eyebrow, Bronchiectasis, Recurrent aphthous stomati... |
OMIM:613075 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Epicanthus, Sparse scalp hair, Eczema, Polyhydramnios, Hyperkeratosis, Loose anagen h... |
OMIM:607721 |
| Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Edema, Pruritus, Increased circulating IgM level, Arthritis, ... |
ORPHA:448237 |
| Lead Poisoning |
|
Abnormality of humoral immunity, Tubulointerstitial nephritis, Increased circulating IgE level, S... |
ORPHA:330015 |
| Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Recurrent pneumonia, Bronchiectasis, Decreased circulating t... |
OMIM:607594 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Thickened skin, Skin rash |
ORPHA:1658 |
| Juvenile Xanthogranuloma |
|
Iritis, Blepharitis, Uveitis |
ORPHA:158000 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Increased circulating antibody level, Pneumonia |
OMIM:247800 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
| Roifman Syndrome |
|
Eczema, Hyperconvex nail, Recurrent pneumonia, Prominent eyelashes, Decreased circulating antibod... |
ORPHA:353298 |
| Anauxetic Dysplasia 2 |
|
Sparse hair, Nail dysplasia, Small nail |
OMIM:617396 |
| Oculocutaneous Albinism Type 1 |
|
White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme... |
ORPHA:352731 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
| Incontinentia Pigmenti |
|
Alopecia, Skin rash, Abnormal fingernail morphology, Supernumerary nipple, Keratitis, Abnormal ha... |
ORPHA:464 |
| Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Sparse scalp hair |
ORPHA:2611 |
| C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Decreased circulating C1q concentration, Bronchiectasis, Reduced ... |
OMIM:620321 |
| Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Patchy alopecia, Iritis |
OMIM:109650 |
| Immunodeficiency 46 |
|
Chronic oral candidiasis, Conjunctivitis, Decreased circulating antibody level |
OMIM:616740 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Synophrys, Aggressive behavior |
OMIM:615541 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Hyperkeratosis with erythema, Coarse hair |
OMIM:118650 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
| Giant Axonal Neuropathy |
|
Woolly hair, Pili canaliculi |
ORPHA:643 |
| Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... |
OMIM:617765 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Upslanted palpeb... |
ORPHA:163654 |
| Distal Duplication 6P |
|
Abnormal hair quantity, Abnormal eyelash morphology, Fine hair, Blepharophimosis, Ptosis |
ORPHA:1745 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Hypertrophic cardiomy... |
ORPHA:848 |
| Subacute Cutaneous Lupus Erythematosus |
|
Discoid lupus rash, Hyperkeratosis, Malar rash, Cheilitis |
ORPHA:163525 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypoplastic nipples, Small nail |
OMIM:273400 |
| Bartsocas-Papas Syndrome |
|
Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Popliteal pterygium, Sparse or absent ey... |
ORPHA:1234 |
| Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Septic arthritis |
ORPHA:36237 |
| Flynn-Aird Syndrome |
|
Alopecia |
ORPHA:2047 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Synovitis, Arthritis, Decreased circulating complement C3 concentr... |
ORPHA:567544 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Lethargy, Hypoketotic hypoglycemia |
OMIM:600649 |
| Schnitzler Syndrome |
|
Pruritus, Increased circulating IgM level, Skin rash, Arthritis |
ORPHA:37748 |
| Warty Dyskeratoma |
|
Abnormal fingernail morphology, Acrokeratosis, Epidermal thickening, Acantholysis |
ORPHA:69745 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Polyhydramnios, Absent eyelashes, ... |
ORPHA:544488 |
| Mucopolysaccharidosis, Type Iiib |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth... |
OMIM:606545 |
| Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Increased circulating IgM level, Decreased circulating IgG2 level, Bronchiectasis, Decreased spec... |
OMIM:615513 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Skin rash |
OMIM:253270 |
| Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, Inf... |
OMIM:618108 |
| Immunodeficiency 105 |
|
Skin rash, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu... |
OMIM:619924 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Alopecia, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucocutaneous candidi... |
ORPHA:227990 |
| Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Dystrophic fingernails, Sparse bod... |
OMIM:150400 |
| Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair, Downslanted palpebral fissures, Ptosis |
OMIM:616559 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Thyroiditis, Bronchiect... |
ORPHA:293978 |
| Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
| 2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Downslanted palpebral fissures, Fine hair |
ORPHA:251019 |
| Cahmr Syndrome |
|
Generalized hypertrichosis |
OMIM:211770 |
| Psoriasis 15, Pustular, Susceptibility To |
|
Psoriasiform dermatitis, Nail dystrophy |
OMIM:616106 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ... |
OMIM:301082 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Slow-growing hair, Abnormal hair morphology, Upslanted palpebral fissure, Uncombable hair, Aplasi... |
ORPHA:3082 |
| Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nasolacrimal duct obst... |
OMIM:103285 |
| Neuroocular Syndrome |
|
Brittle hair, Highly arched eyebrow, Lagophthalmos, Synophrys, Nasolacrimal duct obstruction, Lon... |
OMIM:619539 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... |
OMIM:618213 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Recurrent skin infections, Decreased circulating antibody level, Palmoplantar keratoder... |
ORPHA:79396 |
| Cornelia De Lange Syndrome |
|
Highly arched eyebrow, Curly eyelashes, Synophrys, Increased nuchal translucency, Low anterior ha... |
ORPHA:199 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fissure, Downslanted... |
OMIM:602562 |
| Mucopolysaccharidosis, Type Iiia |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
| Rothmund-Thomson Syndrome |
|
Plantar hyperkeratosis, Porokeratosis, Sparse eyelashes, Skin rash, Alopecia totalis, Sparse eyeb... |
ORPHA:2909 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Epicanthus, Telecanthus, Thickened skin, Synophrys, Recurrent pneumonia, Low anterior hairline, L... |
OMIM:617303 |
| H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Bronchiectasis, Upper eyelid edem... |
ORPHA:168569 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Bronchi... |
OMIM:619220 |
| Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes |
OMIM:616367 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Panhypogammaglobulinemia |
OMIM:601457 |
| Wiskott-Aldrich Syndrome |
|
Eczema, Reduced natural killer cell activity, Increased circulating IgA level, Increased circulat... |
OMIM:301000 |
| Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism |
ORPHA:79431 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Entropion, Trichiasis, Narrow palpebral fissure, Hyperkeratosis, Nail dysplasia, ... |
OMIM:601701 |
| Immunodeficiency 7 |
|
Recurrent otitis media, Patchy alopecia, Chronic oral candidiasis |
OMIM:615387 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Epicanthus, Supernumerary nipple |
ORPHA:3224 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Tubulointerstitial nephritis, Brittle hair, Cholangitis, Ptosis |
OMIM:124000 |
| Shukla-Vernon Syndrome |
|
Sparse hair |
OMIM:301029 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Alopecia, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucocutaneous candidi... |
ORPHA:227982 |
| Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... |
ORPHA:1787 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Reticulated skin pigmentation, Fine hair, Premature graying of hair, Nail dysplasia |
OMIM:613990 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating antibo... |
OMIM:616100 |
| Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Eczema, Thyroiditis, Recurrent aphthous stomatitis, Stomatitis, Decreased circulating I... |
OMIM:212750 |
| Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology |
ORPHA:1515 |
| Bresek Syndrome |
|
Alopecia, Ichthyosis |
ORPHA:85284 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:461 |
| Hatipoglu Immunodeficiency Syndrome |
|
Eczema, Thickened skin, Atopic dermatitis, Premature graying of hair, Recurrent otitis media, Fai... |
OMIM:620331 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis |
OMIM:269200 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
| Even-Plus Syndrome |
|
Sparse hair, Synophrys, Highly arched eyebrow |
OMIM:616854 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Bronchiectasis, Atopic dermatitis... |
ORPHA:436159 |
| Renpenning Syndrome 1 |
|
Epicanthus, Brittle hair, Telecanthus, Upslanted palpebral fissure, Sparse hair, Sparse lateral e... |
OMIM:309500 |
| White Sponge Nevus 2 |
|
Hyperparakeratosis, Edema |
OMIM:615785 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Anemia, Cardiomegaly |
OMIM:618838 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Elbow hypertrichosis, Epicanthus, Eczema, Long eyelashes, Downslanted palpebral fissures |
OMIM:620191 |
| Desbuquois Syndrome |
|
Sparse hair, Abnormal eyelash morphology |
ORPHA:1425 |
| Adiposis Dolorosa |
|
Recurrent skin infections, Sparse axillary hair, Sparse pubic hair, Xerostomia, Arthritis |
ORPHA:36397 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Hyperpigmentation of the skin, Nail dystrophy, Nail dysplasia |
OMIM:175500 |
| Mucopolysaccharidosis, Type Iiic |
|
Synophrys, Coarse hair, Hirsutism, Hypertrichosis |
OMIM:252930 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Small nail, Ichthyosis, Downslanted palpebral fissures |
ORPHA:166035 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Epicanthus, Sparse eyebrow, Synophrys, Sparse hair, Downslanted palpebral fissures |
OMIM:620075 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Abnormal immunoglobulin level, Recurre... |
ORPHA:276 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Multiple cafe-au-lait spots, Patchy alopecia |
ORPHA:85279 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Skin rash, Neutrophilic infiltration of the skin, Increased circulating IgA level, Periorbital ed... |
OMIM:618048 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sparse facial hair, Sparse axillary hair |
OMIM:608154 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Conjunctivitis, Nail dystrophy, Nail dysplasia |
OMIM:226600 |
| 19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin skin, Nail dysplasia, Sparse ha... |
ORPHA:217346 |
| Frontonasal Dysplasia 2 |
|
Telecanthus, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Upslanted palpebral f... |
OMIM:613451 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse hair, Periorbital hyperpigmentation, Sparse eyelashes, Sparse eyebrow |
OMIM:224900 |
| Van Den Bosch Syndrome |
|
Recurrent skin infections, Acrokeratosis |
ORPHA:3417 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Periorbital edema, Arthritis, Panniculitis, Conjunctivitis, Incre... |
OMIM:617591 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Eczema, Highly arched eyebrow, Aggressive behavior, Self-injurious behavior, Skin-... |
OMIM:600430 |
| Macrocephaly/Autism Syndrome |
|
Recurrent otitis media, Epicanthus, Coarse hair, Decreased circulating antibody level |
OMIM:605309 |
| Insulin-Resistance Syndrome Type B |
|
Alopecia, Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increase... |
ORPHA:2298 |
| Reticular Dysgenesis |
|
Chronic otitis media, Skin rash, Dehydration, Decreased circulating antibody level |
ORPHA:33355 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per... |
OMIM:612561 |
| Acral Peeling Skin Syndrome |
|
Eczema, Ichthyosis |
ORPHA:263534 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Polyhydramnios, Increased circulating IgE level, Recurrent pneumonia, Decreased circulating antib... |
ORPHA:508533 |
| Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
| Biotinidase Deficiency |
|
Skin rash, Alopecia, Eczematoid dermatitis, Conjunctivitis |
ORPHA:79241 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Acne |
ORPHA:3098 |
| Subcorneal Pustular Dermatosis |
|
Pustule, Increased circulating antibody level, Rheumatoid arthritis, Pruritus |
ORPHA:48377 |
| Elastoderma |
|
Erysipelas, Eczema |
ORPHA:228240 |
| Neonatal Lupus Erythematosus |
|
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash |
ORPHA:398124 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
| Bone Marrow Failure Syndrome 3 |
|
Epicanthus, Eczema, Hyperkeratosis, Bone marrow hypocellularity, Nail dystrophy, Small nail, Spar... |
OMIM:617052 |
| Hall-Riggs Syndrome |
|
Coarse hair, Slow-growing hair, Thick hair |
ORPHA:2107 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Epicanthus, Curly hair, Slow-growing hair, Polyhydramnios, Absent eyelashes, Atop... |
OMIM:115150 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Eczema |
ORPHA:79254 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Absent lacrimal punctum, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow... |
ORPHA:1071 |
| Hemochromatosis, Type 1 |
|
Alopecia, Hyperpigmentation of the skin |
OMIM:235200 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Sparse hair, Abnormal hair whorl |
ORPHA:2872 |
| Fetal Hydantoin Syndrome |
|
Ptosis, Epicanthus, Low posterior hairline, Coarse hair, Hypoplastic fingernail |
ORPHA:1912 |
| Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair, Telecanthus, Downslanted palpebral fissures |
OMIM:619980 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Uveitis, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:617044 |
| Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Acne, Hirsutism |
ORPHA:77296 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Indolent Systemic Mastocytosis |
|
Maculopapular exanthema, Skin rash, Pruritus, Increased proportion of CD25+ mast cells, Mastocyto... |
ORPHA:98848 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteomyelitis, Skin rash, Pustule, Joint swelling, Hyperkeratosis, Stomatitis |
OMIM:612852 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Epicanthus, Downslanted palpebral fissures, Fine hair |
OMIM:616817 |
| Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
| Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis |
ORPHA:3130 |
| Noonan Syndrome 10 |
|
Curly hair, Epicanthus, Sparse eyebrow, Increased nuchal translucency, Hyperkeratosis, Pleural ef... |
OMIM:616564 |
| Generalized Eruptive Keratoacanthoma |
|
Pruritus, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion |
ORPHA:411777 |
| Tonne-Kalscheuer Syndrome |
|
Concave nail, Downslanted palpebral fissures, Small nail, Fine hair |
OMIM:300978 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Conjunctivitis, Edema |
OMIM:603552 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Erythroderma, Decreased circulating antibody level |
OMIM:617425 |
| Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Downslanted palpebral fissures |
OMIM:601853 |
| Immunodeficiency 96 |
|
Conjunctival telangiectasia, Eczema, Decreased circulating total IgM, Defective T cell proliferat... |
OMIM:619774 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
| Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
| Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
| Poems Syndrome |
|
Edema, Pericardial effusion, Thickened skin, Abnormality of skin physiology, Leukonychia, Increas... |
ORPHA:2905 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Sparse body hair |
OMIM:300869 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
| Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Alopecia, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uve... |
ORPHA:728 |
| Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots |
ORPHA:100 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Alopecia, Pancreatitis |
ORPHA:412057 |
| Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Hyperkeratosis |
OMIM:620014 |
| Systemic Lupus Erythematosus |
|
Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Decreased circulating comple... |
ORPHA:536 |
| Noonan Syndrome 2 |
|
Curly hair, Epicanthus, Polyhydramnios, Sparse eyebrow, Increased nuchal translucency, Low poster... |
OMIM:605275 |
| Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Arthritis, Keratoconju... |
OMIM:617321 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Reticular hyperpigmentation, Premature graying of hair, Nail dy... |
OMIM:127550 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... |
OMIM:618718 |
| Adrenoleukodystrophy |
|
Alopecia, Hyperpigmentation of the skin |
OMIM:300100 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decreased circu... |
ORPHA:275 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Epicanthus, Telecanthus, Thick eyebrow, Highly arched eyebrow, Polyhydramnios, Low po... |
OMIM:617360 |
| Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Fine, reticulate skin pigmentation, Ridged fin... |
OMIM:268130 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Bronchiectasis, Increased circulating IgG level, Increased circu... |
OMIM:618534 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Hirsutism |
OMIM:618087 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Skin rash, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abno... |
OMIM:617600 |
| Roifman Syndrome |
|
Eczema, Recurrent pneumonia, Prominent eyelashes, Recurrent otitis media, Long palpebral fissure,... |
OMIM:616651 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Optic atrophy, Type II diabetes mellitus, Ataxia |
OMIM:604121 |
| Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
| Ane Syndrome |
|
Hyperpigmented nevi, Alopecia, Hyperpigmentation of the skin |
ORPHA:157954 |
| Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Thickened skin, Loss of eyelashes, Conjunctivitis, Scleroderma, Hypertr... |
OMIM:263700 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Bronchiectasis, Decreased circulating antibody level, Increased circulating IgM level,... |
ORPHA:397596 |
| Alstrom Syndrome |
|
Alopecia, Chronic active hepatitis, Recurrent pneumonia, Tubulointerstitial nephritis, Otitis med... |
OMIM:203800 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Pigmentary retinopathy |
OMIM:268020 |
| Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
| Noonan Syndrome 4 |
|
Curly hair, Epicanthus, Polyhydramnios, Sparse eyebrow, Bilateral ptosis, High anterior hairline,... |
OMIM:610733 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Epicanthus, Coarse hair, Ptosis |
ORPHA:1185 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Synophrys, Glomerulonephritis, Fine hair |
OMIM:619428 |
| Hawkinsinuria |
|
Sparse hair |
OMIM:140350 |
| Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, R... |
ORPHA:331235 |
| Donohue Syndrome |
|
Acanthosis nigricans, Hyperkeratosis, Nail dysplasia, Hypertrichosis |
OMIM:246200 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline |
OMIM:619320 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia |
ORPHA:453533 |
| Systemic Sclerosis |
|
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Alopecia, Nail bed te... |
ORPHA:90291 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Genital edema, Predominantly lower limb lymphedema, Recurrent skin infections, Edema of the dorsu... |
ORPHA:568051 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Highly arched eyebrow, Abnormal repetitive mannerisms, Synophrys, Generalized hirs... |
ORPHA:228402 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Pre... |
ORPHA:3440 |
| Juvenile Dermatomyositis |
|
Myositis, Pericarditis, Palpebral edema, Skin rash, Alopecia, Pruritus, Arthritis |
ORPHA:93672 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... |
ORPHA:1010 |
| Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Osteoarthritis, Leukonychia, Fine hair, Thin eyebrow,... |
OMIM:190350 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Epicanthus, Eczema, Seborrheic dermatitis, Downslanted palpebral fissures, Thick eyebrow, Ptosis |
ORPHA:369950 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
| Immunodeficiency 81 |
|
Recurrent cutaneous abscess formation, Skin rash, Reduced natural killer cell activity, Reduced a... |
OMIM:619374 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair |
OMIM:610756 |
| Cerebrofaciothoracic Dysplasia |
|
Epicanthus, Polyhydramnios, Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair... |
ORPHA:1394 |
| Autosomal Recessive Spastic Paraplegia Type 23 |
|
Silver-gray hair, Multiple lentigines, Vitiligo |
ORPHA:101003 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Epicanthus, Fine hair, Upslanted palpebral fissure, Narrow palpebral fissure, Long palpebral fissure |
ORPHA:363686 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... |
OMIM:600795 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Epicanthus, Impaired T cell function, Decreased specific anti-polysaccharide antibody level, Hype... |
OMIM:614576 |
| Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow |
ORPHA:884 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv... |
ORPHA:85436 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Skin rash, Maculopapular exanthema, Periorbital edema, Oligoarthritis, Conjunctivitis, ... |
OMIM:142680 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Hirsutism |
ORPHA:2795 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia, Eyelid coloboma, Abnormal fingernail morphology, Ptosis |
ORPHA:1647 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow |
OMIM:619244 |
| Smith-Kingsmore Syndrome |
|
Curly hair, Downslanted palpebral fissures, Decreased circulating IgA level |
OMIM:616638 |
| Mandibuloacral Dysplasia |
|
Alopecia, Abnormality of skin pigmentation, Thin skin, Sparse hair, Hypoplastic fingernail |
ORPHA:2457 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Abnormal eyelid morphology, Low anterior hairline, Upper eyelid coloboma, Coarse hair, Generalize... |
ORPHA:2095 |
| Koolen-De Vries Syndrome |
|
Epicanthus, Hypopigmentation of hair, Abnormality of hair texture, Upslanted palpebral fissure, I... |
ORPHA:96169 |
| Johanson-Blizzard Syndrome |
|
Absent lacrimal punctum, Alopecia, Abnormal hair pattern, Edema |
ORPHA:2315 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne |
OMIM:604416 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Epicanthus, Synophrys, Low anterior hairline, Fine hair, Sparse hair, Downslanted palpebral fissures |
ORPHA:391408 |
| Pellagra-Like Syndrome |
|
Skin rash |
OMIM:260650 |
| Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Uveitis, Paralytic lagophthalmos, Hyperkeratosis, Ir... |
ORPHA:548 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Arthritis, Conjunctivitis, Skin rash, Uveitis |
OMIM:120100 |
| Mycosis Fungoides |
|
Pruritus, Psoriasiform dermatitis, Eczema |
OMIM:254400 |
| W Syndrome |
|
Downslanted palpebral fissures, Telecanthus, Acne, Abnormality of the scalp hair |
ORPHA:2804 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Follicular hyperkeratosis |
ORPHA:300179 |
| Narcolepsy 7 |
|
Narcolepsy, Type II diabetes mellitus |
OMIM:614250 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Eczema, Abnormality of the nail |
ORPHA:428 |
| Fanconi Anemia, Complementation Group S |
|
Sparse hair, Long eyelashes, Low anterior hairline |
OMIM:617883 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Sparse hair |
OMIM:620001 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Cholangitis, Cholecystitis, Decreased circulating IgG level, Psoriasiform derm... |
ORPHA:183675 |
| Xp22.13P22.2 Duplication Syndrome |
|
Sparse hair, High anterior hairline |
ORPHA:284180 |
| Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Uveitis, Arthritis, Conjunctivitis, Recurrent aphthous stomatitis, Ichth... |
ORPHA:575 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Nail dystrophy, Hypoplastic nip... |
OMIM:305600 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th... |
OMIM:614700 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
| Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Pruritus, Pericardial effusion, Angioedema, Uveitis, Arthritis, Conjunct... |
ORPHA:36412 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
| Majeed Syndrome |
|
Joint swelling, Inflammatory abnormality of the skin, Osteomyelitis, Skin rash |
OMIM:609628 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Sparse body hair |
ORPHA:2234 |
| Bone Marrow Failure Syndrome 4 |
|
Eczema, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:618116 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Epicanthus, Polyhydramnios, Abnormal eyelid morphology, Supernumerary nipple, Fine hair, Aplastic... |
ORPHA:1812 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent otitis media, Increased circulating IgG level, Lymphocytic interstitial pneumonia, Icht... |
OMIM:618495 |
| Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair, Blepharophimosis, Downslanted... |
ORPHA:3079 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Epicanthus, Hydrops fetalis, Fine hair, Nail dysplasia, Sparse hair, Ascites, Aplasia/Hypoplasia ... |
OMIM:614091 |
| Noonan Syndrome 7 |
|
Curly hair, Epicanthus, Low posterior hairline, Palpebral thickening, Downslanted palpebral fissures |
OMIM:613706 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal hair morphology, Alopecia, Nail dystrophy, Hyperpigmentation of the skin |
ORPHA:90154 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Ectropion, Congenital nonbullous ichthyosiform erythroderma, Ptosis |
ORPHA:98907 |
| Noonan Syndrome 14 |
|
Curly hair, Epicanthus, Lacrimal duct stenosis, Polyhydramnios, Sparse eyebrow, Low posterior hai... |
OMIM:619745 |
| Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
| Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
| Coffin-Siris Syndrome 7 |
|
Sparse scalp hair, Hyperactivity, Severe temper tantrums, Polyhydramnios, Compulsive behaviors, H... |
OMIM:618027 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis |
OMIM:611762 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Fine hair, Upslanted palpebral fissure, Long eyelashes, Downslanted palpebral fissures |
OMIM:620250 |
| Boutonneuse Fever |
|
Skin rash, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exanthema |
ORPHA:83313 |
| Distal Deletion 19P |
|
Alopecia, Thick eyebrow, Decreased circulating antibody level |
ORPHA:96129 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Edema, Pruritus, Arthritis, Inflammation... |
ORPHA:324964 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails |
ORPHA:77258 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Downslanted palpebral fissures, Decreased circulating IgA level |
ORPHA:457485 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hyperparakeratosis, Seborrheic dermatitis |
ORPHA:276280 |
| Short Syndrome |
|
Sparse hair, Alopecia, Telecanthus |
ORPHA:3163 |
| Familial Cold Urticaria |
|
Pruritus, Arthritis, Conjunctivitis, Dehydration |
ORPHA:47045 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Symblepharon, Pneumonia, Trich... |
ORPHA:95455 |
| Hallermann-Streiff Syndrome |
|
Telecanthus, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Uveitis, Sp... |
ORPHA:2108 |
| Estrogen Resistance Syndrome |
|
Acanthosis nigricans, Acne, Breast hypoplasia, Abnormality of the pubic hair |
ORPHA:785 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Acne, Hirsutism |
ORPHA:90795 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Cholangitis, Pruritus, Angioedema, Dysphagia, Chron... |
ORPHA:3260 |
| Complete Androgen Insensitivity Syndrome |
|
Acne, Sparse axillary hair, Sparse pubic hair, Absent pubic hair, Absent axillary hair |
ORPHA:99429 |
| Muckle-Wells Syndrome |
|
Conjunctival hyperemia, Conjunctivitis, Recurrent aphthous stomatitis, Maculopapular exanthema |
OMIM:191900 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
| Letterer-Siwe Disease |
|
Stomatitis, Seborrheic dermatitis |
OMIM:246400 |
| 46,Xy Sex Reversal 6 |
|
Hirsutism, Sparse axillary hair |
OMIM:613762 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Scarf Syndrome |
|
Sparse hair, Webbed neck, Hypoplastic nipples, Low posterior hairline |
ORPHA:3134 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis, Lymphedema |
ORPHA:79279 |
| Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Sparse hair |
OMIM:616200 |
| Immunodeficiency 12 |
|
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Cheilitis,... |
OMIM:615468 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Sparse lateral eyebrow |
OMIM:190351 |
| Reynolds Syndrome |
|
Skin rash, Pruritus, Xerostomia, Arthritis, Keratoconjunctivitis sicca, Ascites, Infectious encep... |
ORPHA:779 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Folliculitis, Enterocolitis, Pancolitis |
OMIM:612567 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Sparse hair, Thin skin |
OMIM:219150 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Increased circulating IgG level, Increased circulatin... |
OMIM:209950 |
| Lacrimal Duct Defect |
|
Sinusitis, Periorbital edema, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele |
OMIM:149700 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Acute Radiation Syndrome |
|
Hyperkeratosis, Inflammatory abnormality of the skin, Interstitial pneumonitis |
ORPHA:454831 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Diabetes mellitus, Anemia ... |
ORPHA:231222 |
| Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Epicanthus, Ectropion, Polyhydramnios, Almond-shaped palpebral fissure, Pruritus, Syn... |
OMIM:618268 |
| Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... |
ORPHA:3322 |
| Koolen-De Vries Syndrome |
|
Epicanthus, Eczema, Abnormality of hair texture, Upslanted palpebral fissure, Blepharophimosis, F... |
OMIM:610443 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Abnormality of neutrophil physiology |
ORPHA:542592 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Acne, Hirsutism |
ORPHA:189427 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair, Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorde... |
OMIM:300986 |
| Estrogen Resistance |
|
Breast aplasia, Acne, Acanthosis nigricans |
OMIM:615363 |
| Juvenile Arthritis |
|
Skin rash |
OMIM:618795 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Breast aplasia, Hyperpigmentation of the... |
ORPHA:90153 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair, Retinal pigment epithelial mottling |
OMIM:614105 |
| Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Fulminant hepatitis, Decreased circul... |
OMIM:308240 |
| Lymphedema-Distichiasis Syndrome |
|
Ectropion, Recurrent skin infections, Predominantly lower limb lymphedema, Tubulointerstitial nep... |
ORPHA:33001 |
| Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Ascites, Hypoplastic fing... |
ORPHA:974 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Skin rash, Acute otitis media, Lack of T cell function, Decreased circulating antibody... |
ORPHA:572 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia |
OMIM:617763 |
| Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail |
ORPHA:28378 |
| Multiple Sulfatase Deficiency |
|
Coarse hair, Thick eyebrow, Ichthyosis |
ORPHA:585 |
| Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Osteomyelitis |
ORPHA:36386 |
| Complement Factor I Deficiency |
|
Recurrent skin infections, Glomerulonephritis, Decreased circulating complement factor B concentr... |
OMIM:610984 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Hypopigmentation of the skin |
OMIM:163200 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Palpebral edema, Sparse eyebrow, Early balding |
ORPHA:2067 |
| Mullerian Aplasia And Hyperandrogenism |
|
Acne, Hirsutism |
OMIM:158330 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Sclerodactyly |
OMIM:610644 |
| Simpson-Golabi-Behmel Syndrome |
|
Epicanthus, Supernumerary nipple, Polyhydramnios, Increased circulating IgE level, Small nail, Na... |
ORPHA:373 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Colitis, Skin rash |
OMIM:616744 |
| Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Cheilitis, Hyperkeratosis, Inflammation of the large intestine, Coliti... |
ORPHA:2908 |
| Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Eczema, Edema |
OMIM:177000 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Increased circulating IgA level |
OMIM:314000 |
| Joubert Syndrome 37 |
|
Sparse hair |
OMIM:619185 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Joint swelling, Pleural effusion, Juvenile rheumatoid ... |
ORPHA:85414 |
| Scalp-Ear-Nipple Syndrome |
|
Epicanthus, Telecanthus, Palpebral edema, Sparse axillary hair, Sparse pubic hair, Thickened skin... |
OMIM:181270 |
| Ramon Syndrome |
|
Hyperkeratosis, Juvenile rheumatoid arthritis, Hypertrichosis |
OMIM:266270 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans |
OMIM:618527 |
| Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Ablepharon, Alopecia, Sparse scalp hair, Alopecia totalis, Cicatricial lagophthal... |
OMIM:263650 |
| Hermansky-Pudlak Syndrome 11 |
|
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair |
OMIM:619172 |
| Autoimmune Hepatitis |
|
Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Increa... |
ORPHA:2137 |
| Hereditary Methemoglobinemia |
|
Athetosis, Methemoglobinemia |
ORPHA:621 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia |
ORPHA:93160 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Hyperconvex nail |
OMIM:619721 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chronic mucocutaneous candidiasis... |
OMIM:614868 |
| Autosomal Erythropoietic Protoporphyria |
|
Pruritus, Eczema, Edema |
ORPHA:79278 |
| Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Eczema, Low anterior hairline, Low posterior hairlin... |
OMIM:601358 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
| Irida Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:209981 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Epicanthus, Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epi... |
ORPHA:73223 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:603909 |
| Say-Barber-Miller Syndrome |
|
Eczema, Highly arched eyebrow, Abnormality of the hairline, Sparse eyebrow, Erythema nodosum, Tra... |
ORPHA:3132 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Sparse hair |
OMIM:618253 |
| Viss Syndrome |
|
Chronic gastritis, Ptosis, Ectropion, Sparse scalp hair, Eczema, Polyhydramnios, Alopecia, Increa... |
OMIM:619472 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Thin skin, Fine hair |
OMIM:614438 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Tar... |
OMIM:603903 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis |
OMIM:614457 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Epicanthus, Alopecia, Sparse eyelashes, Sparse scalp hair, Absent eyelashes, Spar... |
OMIM:268400 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Recurrent pneumonia, Eczema, Decreased circulating antibody level |
OMIM:617780 |
| Galloway-Mowat Syndrome 9 |
|
Almond-shaped palpebral fissure, Coarse hair |
OMIM:619603 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki... |
OMIM:256040 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Telecanthus, Epicanthus, Sparse eyelashes, Fine hair, Sparse hair, Downslanted palpebral fissures... |
OMIM:257850 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Generalized ichthyosis, Esophagitis, Abnormality of hair texture |
ORPHA:79351 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... |
ORPHA:2232 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Sparse hair, Thick eyebrow |
ORPHA:127 |
| Chromosome 5P13 Duplication Syndrome |
|
Sparse hair, Low posterior hairline |
OMIM:613174 |
| Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Pustule, Xerostomia, Palmoplantar hyperkeratosis, Keratoconjunctivitis, Nail dystrophy, I... |
ORPHA:2907 |
| Scarf Syndrome |
|
Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Webbed neck, Sparse hair |
OMIM:312830 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Eczema, Bone marrow hypocellularity |
OMIM:616871 |
| Xylt1-Cdg |
|
Synophrys, Acne, Hirsutism |
ORPHA:370930 |
| Chops Syndrome |
|
Curly hair, Thick hair, Synophrys, Coarse hair, Long eyelashes, Aspiration pneumonia, Thick eyebrow |
OMIM:616368 |
| Encephalocraniocutaneous Lipomatosis |
|
Limbal dermoid, Alopecia, Eyelid coloboma |
OMIM:613001 |
| 2P15P16.1 Microdeletion Syndrome |
|
Epicanthus, Telecanthus, Polyhydramnios, Supernumerary nipple, Sparse eyebrow, Fine hair, Long ey... |
ORPHA:261349 |
| Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair |
OMIM:250250 |
| Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation |
OMIM:618156 |
| Giant Cell Arteritis |
|
Alopecia, Arthritis, Pericarditis, Ptosis |
ORPHA:397 |
| Werner Syndrome |
|
Sparse scalp hair, Abnormal hair whorl, Premature graying of hair, Hyperkeratosis, White forelock... |
ORPHA:902 |
| Chime Syndrome |
|
Epicanthus, Fine hair, Upslanted palpebral fissure, Hyperkeratosis, Ichthyosis, Sparse hair, Ptosis |
ORPHA:3474 |
| Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Joint swelling, Eczema |
ORPHA:1525 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline, Cafe-au-lait spot |
OMIM:250410 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Nail dystrophy, Thin skin, Nail dysplasia, Sparse hair |
OMIM:612199 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair |
ORPHA:935 |
| Linear Nevus Sebaceus Syndrome |
|
Alopecia, Irregular hyperpigmentation, Melanocytic nevus |
ORPHA:2612 |
| Mycetoma |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis |
ORPHA:2583 |
| Leigh Syndrome |
|
Ptosis, Alopecia, Eczema, Frontal hirsutism, Hypertrichosis |
ORPHA:506 |
| Ogden Syndrome |
|
Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:276432 |
| Bloom Syndrome |
|
Sparse eyelashes, Pneumonia, Skin rash, Paronychia, Cheilitis, Uveitis, Decreased circulating ant... |
ORPHA:125 |
| Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ptosis, Epicanthus, Curly hair, Lacrimal duct stenosis, Slow-growing hair, Highly arched eyebrow,... |
OMIM:617506 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Polyhydramnios, Seborrheic dermatitis, Hydrops fetalis, Upslanted palpebral fissure, Small nail, ... |
OMIM:300868 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hydrops fetalis, Abnormality of hair texture |
ORPHA:88618 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia |
OMIM:617101 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Epicanthus, Abnormal nasolacrimal system morphology, Edema, Abnormal eyelid morphol... |
ORPHA:2526 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Skin rash, Increased circulating IgA level, Increased circulating IgM level, Joint swelling, Pann... |
OMIM:617099 |
| Trisomy 20P |
|
Epicanthus, Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Ups... |
ORPHA:261318 |
| Gapo Syndrome |
|
Alopecia, Epicanthus, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Spar... |
OMIM:230740 |
| Colchicine Poisoning |
|
Myocarditis, Alopecia, Dehydration |
ORPHA:31824 |
| Oculodentodigital Dysplasia |
|
Epicanthus, Dry hair, Slow-growing hair, Uveitis, Fine hair, Fragile nails, Sparse hair, Blepharo... |
OMIM:164200 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Edema, Pustule, Synovitis, Abnormal in... |
ORPHA:77297 |
| Kikuchi-Fujimoto Disease |
|
Alopecia, Skin rash, Palpebral edema, Pustule, Myocarditis, Pruritus, Pleural effusion, Malar rash |
ORPHA:50918 |
| Orofaciodigital Syndrome Type 3 |
|
Abnormality of hair texture |
ORPHA:2752 |
| Immunodeficiency 97 With Autoinflammation |
|
Recurrent skin infections, Eczema, Enterocolitis, Decreased circulating antibody level, Decreased... |
OMIM:619802 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Epicanthus, Thick eyebrow, Fine hair |
OMIM:614800 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
| Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
| Pneumocystosis |
|
Acute infectious pneumonia, Interstitial pneumonitis, Increased circulating antibody level, Chron... |
ORPHA:723 |
| Acrofacial Dysostosis, Catania Type |
|
Coarse hair, Downslanted palpebral fissures, Abnormal hair pattern |
ORPHA:1786 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Skin rash, Lymphadenitis, Decreased circulating antibody level, Decreased circulating total IgM, ... |
ORPHA:331206 |
| Cutaneous Collagenous Vasculopathy |
|
Pruritus, Skin rash |
ORPHA:280779 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hyperpigmented nevi, Alopecia, Low posterior hairline |
ORPHA:2959 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
| Aredyld Syndrome |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1133 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ichthyosis, Ascites, Aspiration pneumonia, Seborrheic dermatitis |
OMIM:301072 |
| Premature Aging Syndrome, Penttinen Type |
|
Thickened skin, Palmoplantar hyperkeratosis, Corneal stromal edema, Hyperkeratosis, Shallow orbit... |
OMIM:601812 |
| Diamond-Blackfan Anemia 21 |
|
Unilateral ptosis, Synophrys, Widow's peak, Coarse hair, Horizontal eyebrow, Downslanted palpebra... |
OMIM:620072 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Epicanthus, Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Decreased circ... |
OMIM:242860 |
| Ring Chromosome 12 Syndrome |
|
Dystrophic toenail, Acne, Breast hypoplasia, Hirsutism |
ORPHA:1439 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Aplasia/Hypoplasia of the optic nerve, Hb... |
ORPHA:423479 |
| Rothmund-Thomson Syndrome Type 1 |
|
Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Facial edema, Sparse or absent eyelashes... |
ORPHA:221008 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Epicanthus, Polyhydramnios, Highly arched eyebrow, Lymphedema, Low posterior hairline, Fine hair,... |
OMIM:613563 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair, Downslanted palpebral fissures |
ORPHA:85184 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis |
ORPHA:363618 |
| Localized Scleroderma |
|
Fasciitis, Abnormal skin adnexa morphology, Thickened skin, Uveitis, Arthritis, Patchy alopecia, ... |
ORPHA:90289 |
| Lymphedema-Distichiasis Syndrome |
|
Ptosis, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Yellow nails,... |
OMIM:153400 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia, Pericardial effusion, Bilateral ptosis, Keratoconjunctivitis sicca, Periodontitis |
ORPHA:536532 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis, High anterior hairline, Ptosis |
OMIM:615510 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis |
OMIM:618775 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Epicanthus, Alopecia, Eczema, Blepharophimosis, Upslanted palpebral fissure, Hyperkeratosis, Icht... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Epicanthus, Alopecia, Eczema, Blepharophimosis, Upslanted palpebral fissure, Hyperkeratosis, Icht... |
ORPHA:363958 |
| Melkersson-Rosenthal Syndrome |
|
Periorbital edema, Inflammatory abnormality of the skin, Cheilitis, Edema |
ORPHA:2483 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Skin rash, Partial IgA deficiency, Pustule, Acute otitis media, Recurrent pneumonia, Lack of T ce... |
ORPHA:35078 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Epicanthus, Telecanthus, Thick hair, Thickened skin, Increased circulating IgM level, Conjunctivi... |
ORPHA:505248 |
| Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Downslanted palpebral fissures |
OMIM:619435 |
| Adult-Onset Still Disease |
|
Pericarditis, Skin rash, Pruritus, Myocarditis, Hepatitis, Arthritis, Joint swelling, Bone marrow... |
ORPHA:829 |
| Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Spotty hyperpigmen... |
OMIM:614008 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Edem... |
ORPHA:793 |
| Antisynthetase Syndrome |
|
Myositis, Skin rash, Edema, Pruritus, Myocarditis, Xerostomia, Keratoconjunctivitis sicca |
ORPHA:81 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Schimke Immunoosseous Dysplasia |
|
Coarse hair, Abnormal immunoglobulin level, Fine hair, Decreased circulating antibody level |
OMIM:242900 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Alopecia, Urinary bladder inflammation, Thickened skin, Xerostomia, Bronchiectasis, Ar... |
ORPHA:99921 |
| Sympathetic Ophthalmia |
|
Alopecia, Posterior uveitis, Poliosis, Macular edema |
ORPHA:79098 |
| Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... |
ORPHA:39812 |
| Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Follicular hyperkeratosis |
OMIM:617066 |
| Glass Syndrome |
|
Sparse hair, Long eyelashes, Thin skin, Nail dysplasia |
OMIM:612313 |
| Mucopolysaccharidosis, Type Vii |
|
Epicanthus, Hirsutism, Hydrops fetalis, Coarse hair, Recurrent otitis media, Thick eyebrow |
OMIM:253220 |
| C3 Glomerulopathy |
|
Paraproteinemia, Decreased circulating complement C3 concentration, Membranoproliferative glomeru... |
ORPHA:329918 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Epicanthus, Alopecia universalis |
OMIM:277440 |
| Angiostrongyliasis |
|
Increased circulating IgA level, Pruritus, Increased circulating specific IgE antibody, Increased... |
ORPHA:74 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse hair, Nail dysplasia, Sparse eyelashes, Sparse eyebrow |
OMIM:613026 |
| Dubowitz Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Sparse scalp hair, Eczema, Abnormal fingernail morphology, Hypop... |
ORPHA:235 |
| Neutropenia, Severe Congenital, X-Linked |
|
Eczema |
OMIM:300299 |
| Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema |
ORPHA:703 |
| Isolated Congenital Alacrima |
|
Keratitis, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis |
ORPHA:91416 |
| Dermatitis Herpetiformis |
|
Pruritus, Eczema, Edema |
ORPHA:1656 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Telecanthus, Dry hair, Hypopigmentation of hair, Widow's peak, Upslanted palpebral fissure, Coars... |
ORPHA:1974 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic mucocutaneous c... |
ORPHA:911 |
| Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Fine hair |
OMIM:241080 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Recurrent skin infections, Polyhydramnios, Urinary bladder inflammation, Nail dystrophy, Pterygiu... |
ORPHA:79403 |
| Rothmund-Thomson Syndrome Type 2 |
|
Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Facial edema, Sparse or absent eyelashes... |
ORPHA:221016 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Recurrent skin infections, Pneumonia, Edema, Paronychia, Dehydration, Gastrointestinal ... |
ORPHA:79404 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Abnormality of skin pigmentat... |
ORPHA:920 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Mucolipidosis Type Ii |
|
Epicanthus, Dry hair, Thickened skin, White hair, Fine hair, Otitis media, Shallow orbits, Oligoh... |
ORPHA:576 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
| Osteogenesis Imperfecta, Type Xx |
|
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow |
OMIM:618644 |
| Hyper-Igd Syndrome |
|
Skin rash, Increased circulating IgA level, Lymphadenitis, Arthritis, Chronic oral candidiasis, M... |
OMIM:260920 |
| Mucopolysaccharidosis, Type Iiid |
|
Restlessness, Hyperactivity, Thick eyebrow, Aggressive behavior, Synophrys, Hirsutism, Coarse hai... |
OMIM:252940 |
| Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Telecanthus, Unilateral breast hypoplasia, Split nail, Widow's peak, Bre... |
OMIM:304110 |
| Cranioectodermal Dysplasia 3 |
|
Telecanthus, Short nail, Broad nail, Fine hair, Sparse hair |
OMIM:614099 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Mongolian blue spot, Dry hair, Low anterior hairline |
OMIM:618569 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, Ulcerative coli... |
OMIM:618935 |
| Hermansky-Pudlak Syndrome |
|
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Long eyelashes |
ORPHA:79430 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Skin rash, Pruritus, Pruritus on foot, Abnormal circulating interleukin concentration, Cholecysti... |
ORPHA:69665 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ... |
ORPHA:449291 |
| Dubowitz Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Sparse scalp hair, Eczema, Otitis media, Blepharophimosis, Decre... |
OMIM:223370 |
| 22Q11.2 Deletion Syndrome |
|
Telecanthus, Epicanthus, Acne, Impaired T cell function, Polyhydramnios, Abnormal eyelid morpholo... |
ORPHA:567 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Acanthosis nigricans, Sparse scalp hair, Alopecia, Onychogryposis |
OMIM:248370 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Psoriasiform dermatitis, Nail dystrophy, Sparse hair, Alopecia of scalp |
ORPHA:436252 |
| Autosomal Recessive Robinow Syndrome |
|
Epicanthus, Alopecia, Upslanted palpebral fissure, Long eyelashes, Fingernail dysplasia, Long pal... |
ORPHA:1507 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Follicular hyperkeratosis |
ORPHA:486815 |
| Stevens-Johnson Syndrome |
|
Entropion, Conjunctivitis, Pancreatitis, Acantholysis |
ORPHA:36426 |
| Hermansky-Pudlak Syndrome 9 |
|
Recurrent skin infections, Abnormal platelet aggregation |
OMIM:614171 |
| B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Edema |
ORPHA:79332 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Sparse body hair |
ORPHA:3068 |
| Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Pericardial effusion, Myocarditi... |
ORPHA:781 |
| Waardenburg Syndrome, Type 1 |
|
White eyelashes, White eyebrow, Partial albinism, Synophrys, Blue irides, Premature graying of ha... |
OMIM:193500 |
| Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Glomerulonephritis, Lymphedema, Circulating immune complexes... |
ORPHA:2035 |
| Toxic Epidermal Necrolysis |
|
Entropion, Conjunctivitis, Pancreatitis, Acantholysis |
ORPHA:537 |
| Uremic Pruritus |
|
Recurrent skin infections, Inflammatory abnormality of the skin, Abnormality of serum cytokine le... |
ORPHA:94059 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Co... |
OMIM:601495 |
| Scleromyxedema |
|
Pruritus, Thickened skin, Paraproteinemia, Sclerodactyly |
ORPHA:167635 |
| Mu-Heavy Chain Disease |
|
Increased circulating antibody level |
ORPHA:100024 |
| Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... |
OMIM:608156 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Sparse hair, Coarse hair, Downslanted palpebral fissures, Thick hair |
ORPHA:357074 |
| Bainbridge-Ropers Syndrome |
|
Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Long eyelashes, Thin eyebrow, ... |
OMIM:615485 |
| Orofaciodigital Syndrome I |
|
Epicanthus, Telecanthus, Dry hair, Alopecia, Sparse hair, Downslanted palpebral fissures |
OMIM:311200 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Coarse hair, Nail dysplasia, Shallow orbits |
OMIM:612394 |
| Kawasaki Disease |
|
Pericarditis, Abnormality of nail color, Skin rash, Edema, Myocarditis, Hepatitis, Cheilitis, Art... |
ORPHA:2331 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... |
ORPHA:91139 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Seborrheic dermatitis, Decreased circu... |
OMIM:274000 |
| Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... |
ORPHA:3243 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Sparse hair, Thick eyebrow, Long eyelashes, Hirsutism |
OMIM:212066 |
| Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Arthritis, ... |
OMIM:186580 |
| Autosomal Dominant Robinow Syndrome |
|
Epicanthus, Alopecia, Onychogryposis of fingernail, Curly eyelashes, Upslanted palpebral fissure,... |
ORPHA:3107 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Increased circulating antibody level, Hepatitis, Maculopapular exanthema |
ORPHA:319218 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level |
OMIM:615285 |
| Lateral Meningocele Syndrome |
|
Telecanthus, Coarse hair, Downslanted palpebral fissures, Ptosis |
OMIM:130720 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Narrow palpebral fissure, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Fine... |
ORPHA:2637 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
| Hamamy Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh... |
OMIM:611174 |
| Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
| Sialidosis Type 1 |
|
Hyperkeratosis |
ORPHA:812 |
| Marshall Syndrome |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
ORPHA:560 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Fac... |
ORPHA:79078 |
| Lassa Fever |
|
Facial edema, Increased circulating IgM level, Conjunctivitis |
ORPHA:99824 |
| Leishmaniasis |
|
Rhinitis, Increased circulating antibody level |
ORPHA:507 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai... |
ORPHA:444077 |
| Good Syndrome |
|
Sinusitis, Recurrent skin infections, Bronchiectasis, Decreased circulating antibody level, Ptosis |
ORPHA:169105 |
| Noonan Syndrome |
|
Abnormal hair quantity, Lymphedema, Low posterior hairline, Coarse hair, Abnormal platelet functi... |
ORPHA:648 |
| Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
| Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Pruritus, Peritonitis, Incre... |
ORPHA:228123 |
| Gaucher Disease, Perinatal Lethal |
|
Nonimmune hydrops fetalis, Polyhydramnios, Hyperkeratosis, Congenital nonbullous ichthyosiform er... |
OMIM:608013 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Decreased lymphocyte apoptosis, Increased circulating antibody level |
OMIM:614470 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse hair, Aplasia of the sweat glands, Sparse scalp hair |
OMIM:612132 |
| Sarcoidosis |
|
Alopecia, Maculopapular exanthema, Erythema nodosum, Dacryocystitis, Enlarged lacrimal glands, Br... |
ORPHA:797 |
| Hennekam Syndrome |
|
Epicanthus, Sparse axillary hair, Lymphedema, Pericardial effusion, Hydrops fetalis, Decreased ci... |
ORPHA:2136 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Ocular albinism, Thin skin, Iris hypopigmentation |
ORPHA:2719 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Dacryocystitis, Downslanted palpebral fissures, Fine hair |
ORPHA:251028 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Abnormal hair morphology, Abnormal hair whorl, Premature grayin... |
ORPHA:79474 |
| Chand Syndrome |
|
Curly hair, Nail dysplasia, Hypohidrosis |
ORPHA:1401 |
| Weaver Syndrome |
|
Deep-set nails, Epicanthus, Thin nail, Fine hair, Sparse hair, Downslanted palpebral fissures |
OMIM:277590 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Perianal abscess, Bronc... |
ORPHA:2968 |
| Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Recurrent pneumonia, Fine hair, Sparse hair,... |
OMIM:234100 |
| Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... |
OMIM:214500 |
| Immunodeficiency 68 |
|
Lymphadenitis, Recurrent skin infections, Septic arthritis |
OMIM:612260 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair |
OMIM:616449 |
| Mevalonic Aciduria |
|
Skin rash, Edema, Morbilliform rash, Increased circulating IgD level, Downslanted palpebral fissures |
OMIM:610377 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Epicanthus, Telecanthus, Highly arched eyebrow, Palmoplantar hyperkeratosis, Fine hair, Hypoplast... |
OMIM:280000 |
| Genitopatellar Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:85201 |
| Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
| Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Alopecia, Abnormal nasolacrimal system morphology, Abnormal eyelid m... |
ORPHA:2396 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect |
OMIM:619769 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level |
OMIM:202700 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Adult Idiopathic Neutropenia |
|
Increased circulating IgM level, Recurrent aphthous stomatitis |
ORPHA:2688 |
| Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
| Teebi-Shaltout Syndrome |
|
Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair |
OMIM:272950 |
| Goldberg-Shprintzen Syndrome |
|
Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow |
OMIM:609460 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis |
ORPHA:163966 |
| Fucosidosis |
|
Generalized hyperkeratosis, Abnormality of the nail |
ORPHA:349 |
| Rift Valley Fever |
|
Skin rash, Hepatitis, Uveitis, Macular edema, Increased circulating IgG level, Increased circulat... |
ORPHA:319251 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Increased circulating IgM level, Decreased circulating IgG level, Bronchiectasis, Decreased circu... |
OMIM:616005 |
| Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Fine hair |
OMIM:616202 |
| Down Syndrome |
|
Sparse hair |
ORPHA:870 |
| De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Entropion, Keratitis, Conjunctivitis, Ectropion |
OMIM:278800 |
| Hajdu-Cheney Syndrome |
|
Telecanthus, Abnormal fingernail morphology, Thickened skin, Synophrys, Low anterior hairline, Co... |
ORPHA:955 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyebrow, Thin fingernail, Porokeratosis, Eczema, Absent eyelashes |
ORPHA:85199 |
| Menkes Disease |
|
Hypopigmentation of hair, Osteomyelitis, Thickened skin, Sparse hair, Woolly hair |
ORPHA:565 |
| Focal Dermal Hypoplasia |
|
Abnormality of skin pigmentation, Alopecia, Abnormality of the nail |
ORPHA:2092 |
| Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
| Kaufman Oculocerebrofacial Syndrome |
|
Sparse hair, Thin skin, Sparse eyebrow |
OMIM:244450 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair |
OMIM:615349 |
| Restrictive Dermopathy |
|
Telecanthus, Entropion, Generalized hyperkeratosis, Short nail, Polyhydramnios, Epidermal hyperke... |
ORPHA:1662 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail |
OMIM:614813 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Persistence of hemoglobi... |
OMIM:260400 |
| Cerebellar-Facial-Dental Syndrome |
|
Sparse eyebrow, Sparse hair, S-shaped palpebral fissures, Fine hair |
ORPHA:444072 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Arthritis, Peritonitis, Recurrent aphthous stomatitis, Increased circulating IgA level |
ORPHA:343 |
| Agel Amyloidosis |
|
Sparse hair, Nail dystrophy |
ORPHA:85448 |
| Opitz-Kaveggia Syndrome |
|
Epicanthus, Fine hair, Frontal upsweep of hair, Sparse hair, Downslanted palpebral fissures |
OMIM:305450 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Edema, Pericardial effusion, Hepatitis, Ato... |
OMIM:615846 |
| Adrenomyeloneuropathy |
|
Abnormality of skin pigmentation, Lip hyperpigmentation, Frontal balding, Fine hair |
ORPHA:139399 |
| Wiedemann-Rautenstrauch Syndrome |
|
Absent eyebrow, Sparse scalp hair, Entropion, Sparse eyelashes, Pneumonia, Alopecia, Absent eyela... |
OMIM:264090 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Periorbital edema, Peritonitis, Uveitis, ... |
ORPHA:32960 |
| Hyperzincemia With Functional Zinc Depletion |
|
Skin rash |
OMIM:601979 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis, Pilomatrixoma |
OMIM:620189 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Sparse hair, Cafe-au-lait spot |
OMIM:614114 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
| White-Sutton Syndrome |
|
Sparse hair |
OMIM:616364 |
| Gaucher Disease Type 1 |
|
Pericardial effusion, Osteoarthritis, Pedal edema, Increased circulating antibody level, Ascites |
ORPHA:77259 |
| Familial Keratoacanthoma |
|
Hyperkeratosis |
ORPHA:493 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Pruritus, Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflamm... |
ORPHA:562639 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy, Optic atrophy, Ataxia |
ORPHA:314404 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Frontal balding, Acne, Hirsutism |
ORPHA:786 |
| De Barsy Syndrome |
|
Sparse hair, Thin skin |
ORPHA:2962 |
| Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Upslanted palpebral fissure, Patchy alopecia, Thick eyebrow |
OMIM:300534 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
| Cranioectodermal Dysplasia 1 |
|
Epicanthus, Telecanthus, Slow-growing hair, Short nail, Thin nail, Fine hair, Tubulointerstitial ... |
OMIM:218330 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sparse hair, Synophrys, Toenail dysplasia, Hirsutism |
OMIM:300966 |
| Costello Syndrome |
|
Deep-set nails, Curly hair, Epicanthus, Thin nail, Polyhydramnios, Concave nail, Acanthosis nigri... |
OMIM:218040 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Sparse hair |
OMIM:616541 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Curly hair, Epicanthus, Short palpebral fissure, Low anterior hairline, Upslanted palpebral fissu... |
OMIM:619950 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level |
ORPHA:206594 |
| Mucopolysaccharidosis Type 3 |
|
Thick hair, Synophrys, Coarse hair, Otitis media, Aspiration pneumonia, Chronic otitis media, Gen... |
ORPHA:581 |
| Distal Deletion 12Q |
|
Late onset atopic dermatitis, Telecanthus, Fine hair, Small nail, Downslanted palpebral fissures |
ORPHA:96149 |
| Immunodeficiency 17 |
|
Recurrent otitis media, Chronic oral candidiasis, Eczema, Chronic decreased cirulating IgG2 |
OMIM:615607 |
| Stuve-Wiedemann Syndrome 1 |
|
Sparse hair, Blotching pigmentation of the skin, Thin skin |
OMIM:601559 |
| Primary Biliary Cholangitis |
|
Increased circulating IgA level, Pruritus, Hepatitis, Gastrointestinal inflammation, Increased ci... |
ORPHA:186 |
| Leprechaunism |
|
Thickened skin, Acanthosis nigricans, Hyperkeratosis, Facial hypertrichosis, Hypertrichosis |
ORPHA:508 |
| Lysinuric Protein Intolerance |
|
Sparse hair, Pancreatitis, Fine hair |
OMIM:222700 |
| Digeorge Syndrome |
|
Acne, Impaired T cell function, Seborrheic dermatitis, Blepharophimosis, Recurrent pneumonia, Rec... |
OMIM:188400 |
| African Trypanosomiasis |
|
Pericarditis, Alopecia, Keratitis, Myocarditis, Pruritus, Optic neuritis, Conjunctivitis, Iritis,... |
ORPHA:3385 |
| Myhre Syndrome |
|
Pericardial effusion, Thickened skin, Fine hair, Narrow palpebral fissure, Sparse hair, Blepharop... |
OMIM:139210 |
| Phakomatosis Pigmentokeratotica |
|
Patchy alopecia, Hyperhidrosis |
ORPHA:2874 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy |
OMIM:614748 |
| Acromegaly |
|
Acne, Palpebral edema, Abnormal fingernail morphology, Thickened skin, Synophrys, Osteoarthritis,... |
ORPHA:963 |
| Immunodeficiency 55 |
|
Recurrent skin infections, Eczema, Ichthyosis |
OMIM:617827 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Chronic rhinitis, Otitis media, Abnormality of hair texture |
ORPHA:667 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Epicanthus, Alopecia, Abnormal fingernail morphology, Lymphedema, Hypoplastic toenails, Neck pter... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Epicanthus, Alopecia, Abnormal fingernail morphology, Lymphedema, Hypoplastic toenails, Neck pter... |
ORPHA:99228 |
| Monosomy X |
|
Epicanthus, Alopecia, Abnormal fingernail morphology, Lymphedema, Hypoplastic toenails, Neck pter... |
ORPHA:99226 |
| Turner Syndrome |
|
Epicanthus, Alopecia, Abnormal fingernail morphology, Lymphedema, Hypoplastic toenails, Neck pter... |
ORPHA:881 |
| Tempi Syndrome |
|
Increased circulating IgG level, Ascites, Transudative pleural effusion |
ORPHA:284227 |
| Fontaine Progeroid Syndrome |
|
Sparse scalp hair, Aplastic/hypoplastic lacrimal glands, Absent nipple, Synophrys, Low anterior h... |
OMIM:612289 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Decreased circulating total IgG, Pneumonia, Skin rash, Recurrent skin infections, ... |
OMIM:619381 |
| 6Q Terminal Deletion Syndrome |
|
Hyperkeratosis, Short palpebral fissure, Low anterior hairline, Highly arched eyebrow |
ORPHA:75857 |
| Restrictive Dermopathy 1 |
|
Entropion, Sparse eyelashes, Short nail, Polyhydramnios, Epidermal hyperkeratosis, Absent eyelash... |
OMIM:275210 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Ogden Syndrome |
|
Epicanthus, Pulmonary edema, Eczema, Abnormal eyelid morphology, Sparse eyebrow, Bilateral ptosis... |
OMIM:300855 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms |
OMIM:616393 |
| Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Orchitis, Myocardit... |
ORPHA:1304 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Scalp-Ear-Nipple Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Breast aplasia |
ORPHA:2036 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Keratitis, Entropion, Conjunctivitis, Ectropion |
OMIM:278740 |
| Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Thin skin, Sparse hair, Hypoplastic finger... |
OMIM:200110 |
| Congenital Analbuminemia |
|
Edema, Facial edema, Pedal edema, Increased circulating antibody level, Oligohydramnios |
ORPHA:86816 |
| Monosomy 22Q13.3 |
|
Hyperactivity, Recurrent skin infections, Palpebral edema, Lymphedema, Hypoplastic toenails, Hair... |
ORPHA:48652 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Follicular hyperkeratosis |
OMIM:254090 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Fetal ascites, Synophrys, Chronic otitis media, Thoracic hypertrichosis, Medial flaring of the ey... |
OMIM:619503 |
| Bethlem Myopathy |
|
Hyperkeratosis |
ORPHA:610 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Sparse body hair, Breast hypoplasia |
ORPHA:432 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Generalized hypopigmentation, Alopecia |
OMIM:619321 |
| Chikungunya |
|
Maculopapular exanthema, Skin rash, Erythema nodosum, Pruritus, Facial edema, Crusting erythemato... |
ORPHA:324625 |
| Japanese Encephalitis |
|
Increased circulating IgM level, Increased circulating antibody level, Eyelid fasciculation, Infe... |
ORPHA:79139 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Orchitis, Urinary bladder inflammation, Pruritus |
ORPHA:556 |
| Noonan Syndrome 1 |
|
Epicanthus, Lymphedema, Synovitis, Low posterior hairline, Chylothorax, Woolly hair, Downslanted ... |
OMIM:163950 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Sparse hair, Thin nail |
OMIM:617799 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Macular edema, Scler... |
ORPHA:91500 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
| Nocardiosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Dacryocystitis, Peritonitis, Th... |
ORPHA:31204 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Adams-Oliver Syndrome 1 |
|
Alopecia, Supernumerary nipple, Small nail |
OMIM:100300 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Sparse hair |
OMIM:300661 |
| Refractory Celiac Disease |
|
Inflammatory abnormality of the skin |
ORPHA:398063 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... |
OMIM:176270 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Ring Chromosome 13 Syndrome |
|
Abnormality of skin pigmentation, Alopecia, Cafe-au-lait spot |
ORPHA:96176 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Per... |
OMIM:301040 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Sparse hair, Thin skin |
OMIM:151050 |
| Alveolar Echinococcosis |
|
Increased circulating antibody level, Cholangitis, Pedal edema, Cutaneous abscess |
ORPHA:284 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pericardial effusion, Inflammatory abnormality of the skin, Pneumonia |
ORPHA:26793 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3464 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Loss of eyelashes, Thin eyebrow, Sparse hair, Downslanted palpebral fissures |
ORPHA:2636 |
| Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Pericardial effusion, Iridocyclitis, Enlarged lacrimal glands, ... |
OMIM:181000 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Hepatitis, Bronchiectasis, Enterocolitis, Abnormal ... |
ORPHA:391487 |
| Melnick-Needles Syndrome |
|
Recurrent otitis media, Coarse hair, Frontal hirsutism |
OMIM:309350 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Hyperkeratosis, Sparse hair, Olig... |
OMIM:210710 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair |
OMIM:619934 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Perianal abscess... |
OMIM:301074 |
| Blau Syndrome |
|
Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ... |
ORPHA:90340 |
| Cartilage-Hair Hypoplasia |
|
Sparse hair, Abnormality of retinal pigmentation, Sparse eyebrow |
ORPHA:175 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... |
ORPHA:177907 |
| Kanzaki Disease |
|
Hyperkeratosis, Tortuosity of conjunctival vessels, Lymphedema |
OMIM:609242 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98754 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398069 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Cheilitis, Dehydration, Fine hair, Upslanted palpebral fissure, Arthritis, Joi... |
ORPHA:534 |
| Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... |
ORPHA:167 |
| Steinert Myotonic Dystrophy |
|
Bilateral ptosis, Alopecia, Early balding, Polyhydramnios |
ORPHA:273 |
| Cockayne Syndrome B |
|
Dry hair, Abnormal hair morphology, Abnormality of skin pigmentation, Pigmentary retinopathy, Spa... |
OMIM:133540 |
| Occipital Horn Syndrome |
|
Thick hair, Hepatitis, Coarse hair, Esophagitis, Downslanted palpebral fissures |
ORPHA:198 |
| Cogan Syndrome |
|
Episcleritis, Keratitis, Uveitis, Scleritis, Conjunctivitis, Inflammatory abnormality of the eye |
ORPHA:1467 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98793 |
| Cockayne Syndrome Type 3 |
|
Premature graying of hair, Keratoconjunctivitis sicca, Dry hair |
ORPHA:90324 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177901 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis, Lymphedema |
ORPHA:79280 |
| Vici Syndrome |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmentation of the skin, Albinism |
OMIM:242840 |
| Crimean-Congo Hemorrhagic Fever |
|
Acute pancreatitis, Erythema nodosum, Myocarditis, Orchitis, Epididymitis, Pericardial effusion, ... |
ORPHA:99827 |
| Cockayne Syndrome |
|
Keratoconjunctivitis sicca, Malar rash, Fine hair, Dry hair |
ORPHA:191 |
| Cockayne Syndrome A |
|
Dry hair, Retinal pigment epithelial mottling, Abnormality of skin pigmentation, Pigmentary retin... |
OMIM:216400 |
| Marburg Hemorrhagic Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Uveitis, Dehydration, Arthritis, Incr... |
ORPHA:99826 |
| Fabry Disease |
|
Conjunctival telangiectasia, Arthritis, Hyperkeratosis, Lymphedema |
ORPHA:324 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Epicanthus, Recurrent pneumonia, Follicular hyperkeratosis, Downslanted palpebral fissures, Ptosis |
OMIM:225400 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level |
ORPHA:99965 |
| Zttk Syndrome |
|
Curly hair, Epicanthus, Sparse eyebrow, Downslanted palpebral fissures, Broad eyebrow |
OMIM:617140 |
| Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Epicanthus, Eczema, Polyhydramnios, Hyperconvex nail, Fine hair, F... |
OMIM:613406 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Pancreatitis, Ichthyosis |
ORPHA:565612 |
| Niemann-Pick Disease Type C |
|
Hepatomegaly, Ataxia, Bone-marrow foam cells, Splenomegaly, Narcolepsy, Hepatosplenomegaly, Progr... |
ORPHA:646 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Synophrys, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:447997 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Epicanthus, Synophrys, Downslanted palpebral fissures, Follicular hyperkeratosis |
ORPHA:536545 |
| Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Alopecia totalis, Nocturnal lagophthalmos, Osteoarthritis, Loss of eyelashes, Pat... |
ORPHA:740 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Sparse hair, Sparse scalp hair, Pigmentary retinopathy, Thin skin |
OMIM:606721 |
| Neurocardiofaciodigital Syndrome |
|
Sparse hair, Sparse eyebrow |
OMIM:619869 |
| Cystic Echinococcosis |
|
Membranous nephropathy, Increased circulating antibody level |
ORPHA:400 |
| Warburg-Cinotti Syndrome |
|
Epicanthus, Symblepharon, Narrow palpebral fissure, Joint swelling, Follicular hyperkeratosis, Bl... |
OMIM:618175 |
| Coffin-Siris Syndrome 1 |
|
Ptosis, Sparse scalp hair, Dry hair, Hypoplastic fifth fingernail, Lumbosacral hirsutism, Long ey... |
OMIM:135900 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Sparse scalp hair, Highly arched eyebrow, Sparse eyebrow, Synophrys, Low anterior hairline, Long ... |
OMIM:619841 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Sparse eyebrow, Nail dystrophy, Hypoplastic nipples, Small nail, Sparse hair |
OMIM:620186 |
| Coffin-Lowry Syndrome |
|
Telecanthus, Highly arched eyebrow, Hyperconvex fingernails, Coarse hair, Downslanted palpebral f... |
OMIM:303600 |
| Primary Sclerosing Cholangitis |
|
Pruritus, Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis, Polyclonal elevation of IgM, Pleur... |
ORPHA:171 |
| Occipital Horn Syndrome |
|
Coarse hair, Pili torti |
OMIM:304150 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Epicanthus, Dry hair, Pneumonia, Eczema, Peritonitis, Nail dystrophy, Recurren... |
OMIM:619991 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Epicanthus, Follicular hyperkeratosis, Polyhydramnios |
OMIM:614557 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Sparse pubic hair, Sparse body hair, Sparse axillary hair |
ORPHA:90796 |
| Al Amyloidosis |
|
Xerostomia, Peripheral edema, Increased circulating antibody level |
ORPHA:85443 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Sparse hair |
OMIM:620005 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Eczema, Aggressive behavior, Hair-pulling, Recurrent pneumonia, Polyphagia, Self-inj... |
OMIM:620330 |
| Vascular Ehlers-Danlos Syndrome |
|
Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Alopecia, Abnormality of hair texture, Abnorm... |
ORPHA:286 |
| Cranioectodermal Dysplasia 2 |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
OMIM:613610 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Sparse hair, Nail dysplasia |
OMIM:616682 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Sparse hair, Nail dystrophy, Sparse eyebrow |
OMIM:619127 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Degcags Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo... |
OMIM:619488 |
| Cysticercosis |
|
Iridocyclitis, Increased circulating antibody level, Infectious encephalitis |
ORPHA:1560 |
| Roberts Syndrome |
|
Sparse hair |
ORPHA:3103 |
| Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level |
ORPHA:90003 |
| Gaucher Disease |
|
Osteomyelitis, Osteoarthritis, Hepatitis, Hydrops fetalis, Increased circulating antibody level, ... |
ORPHA:355 |
| Multiple Myeloma |
|
Increased circulating IgG level, Pleural effusion, Increased circulating IgA level, Decreased cir... |
ORPHA:29073 |
| Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... |
ORPHA:2388 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Curly hair, Epicanthus, Sparse eyebrow, Secretory IgA deficiency, Decreased circulating IgG level... |
ORPHA:500150 |
| Tick-Borne Encephalitis |
|
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... |
ORPHA:297 |
| Proteus Syndrome |
|
Generalized hyperkeratosis, Lymphedema, Retinal hamartoma, Thickened skin, Abnormality of the nai... |
ORPHA:744 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Curly hair, Telecanthus, Upslanted palpebral fissure, Hypoplastic nipples, Downslanted palpebral ... |
ORPHA:480880 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sparse hair, Frontal hirsutism |
OMIM:617157 |
| Lysinuric Protein Intolerance |
|
Glomerulonephritis, Decreased circulating antibody level, Abnormality of humoral immunity, Tubulo... |
ORPHA:470 |
| Encephalitis Lethargica |
|
Increased circulating antibody level |
ORPHA:83600 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Increased circulating antibody level |
OMIM:606002 |
| Pallister-Killian Syndrome |
|
Sparse scalp hair, Telecanthus, Epicanthus, Sparse eyelashes, Edema of the dorsum of feet, Polyhy... |
OMIM:601803 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Synophrys, Pigmentary retinopathy, Thin skin, Sparse hair, Hirsutism, Aplasia/... |
ORPHA:3455 |
| Smith-Lemli-Opitz Syndrome |
|
Abnormal eyelash morphology, Hypopigmentation of hair |
ORPHA:818 |
| Cystinosis, Nephropathic |
|
Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm... |
OMIM:219800 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Thick eyebrow, Sparse hair, Alopecia of scalp, Fragile nails |
OMIM:150230 |
| Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
| Gaucher Disease Type 3 |
|
Pericardial effusion, Increased circulating antibody level, Hydrops fetalis |
ORPHA:77261 |
| Wrinkly Skin Syndrome |
|
Sparse hair, Short nail, Fragile nails |
OMIM:278250 |
| Branchiooculofacial Syndrome |
|
Supernumerary nipple, Low posterior hairline, Premature graying of hair, White forelock, Sparse h... |
OMIM:113620 |
| Menke-Hennekam Syndrome 1 |
|
Sparse hair, Long eyelashes, Thick eyebrow |
OMIM:618332 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Narcolepsy, Hyperglycemia |
ORPHA:293987 |
| Cowden Syndrome |
|
Generalized hyperkeratosis, Conjunctival hamartoma, Palmoplantar keratoderma |
ORPHA:201 |
| Yellow Fever |
|
Increased circulating IgM level, Increased circulating interleukin 6 concentration, Skin rash, Ac... |
ORPHA:99829 |
| Wrinkly Skin Syndrome |
|
Sparse hair |
ORPHA:2834 |
| Primrose Syndrome |
|
Sparse scalp hair, Absent facial hair, Synophrys, Absent axillary hair, Dystrophic fingernails, S... |
OMIM:259050 |
| Roberts-Sc Phocomelia Syndrome |
|
Sparse hair, Cafe-au-lait spot |
OMIM:268300 |
| Alström Syndrome |
|
Glomerulonephritis, Frontal balding, Recurrent pneumonia, Hepatitis, Fine hair, Otitis media, Rec... |
ORPHA:64 |
