Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Atrichia With Papular Lesions |
|
Sparse hair, Generalized papillary lesions |
OMIM:209500 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Hair-nail ectodermal dysplasia, Thin toenail, Sparse hair, Dystrophic toenail |
OMIM:614928 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair, Cutaneous photosensitivity |
OMIM:234030 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:617574 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Juvenile cataract, Pili canaliculi |
OMIM:617251 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Dry skin, Sparse hair |
OMIM:617073 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Hypoplasia of the ear... |
ORPHA:113 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Ectodermal dysplasia, Atrichia, Nail dystrophy, Nail dysplasia, S... |
OMIM:614931 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Ichthyosis Vulgaris |
|
Eczematoid dermatitis, Dry skin |
OMIM:146700 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:2297 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:244850 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Anonychia With Flexural Pigmentation |
|
Anonychia, Dry skin |
OMIM:106750 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis |
OMIM:101900 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera... |
ORPHA:2722 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Corneal opacity, Hyperparakeratosis, Periorificial hyper... |
OMIM:614594 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Hair-nail ectodermal dysplasia, Absent eyelashes, Onychol... |
OMIM:602032 |
Ulerythema Ophryogenesis |
|
Acne, Facial erythema, Dry skin, Contact dermatitis, Sparse lateral eyebrow |
ORPHA:3406 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythem... |
ORPHA:346 |
Dermatitis, Atopic |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Facial erythem... |
OMIM:603165 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding, Cutaneous photosensitivity |
OMIM:616390 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Sparse hair, Dry skin, ... |
OMIM:618535 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Anonychia With Flexural Pigmentation |
|
Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia |
ORPHA:69125 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Developmental cataract, Hyperkeratosis, Nail dystr... |
OMIM:212360 |
Aredyld |
|
Ectodermal dysplasia, Generalized hypotrichosis |
OMIM:207780 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo... |
ORPHA:573 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Sensorineural hearing impairment, Coarse hair, Hair shafts flat... |
OMIM:262000 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Ectoderm... |
OMIM:613573 |
Amyloidosis, Primary Localized Cutaneous, 3 |
|
Pruritus, Dry skin |
OMIM:617920 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Dermatoleukodystrophy |
|
Premature skin wrinkling, Macrotia, Progeroid facial appearance |
OMIM:221790 |
Dermoodontodysplasia |
|
Dry skin, Nail dysplasia, Trichodysplasia |
OMIM:125640 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Palmoplantar hyperkeratosis, Porokeratosis |
ORPHA:737 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Corneal opacity, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hyp... |
OMIM:602400 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule, Scarring alopecia of scalp, Erythema, Abnormal hair morphology |
ORPHA:222 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormality of the skin, Recurrent ... |
ORPHA:499 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
Porokeratosis Of Mibelli |
|
Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Proliferating Trichilemmal Cyst |
|
Sparse scalp hair, Skin ulcer |
ORPHA:492 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Synophrys, Macrotia |
OMIM:300803 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair, Protruding ear |
OMIM:278200 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,... |
ORPHA:170 |
Chilblain Lupus 1 |
|
Abnormality of the nail, Chilblains, Skin ulcer |
OMIM:610448 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Generalized hirsutism, Thickened skin |
ORPHA:2812 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Opacification of the corneal stroma, Ichthyosis |
ORPHA:461 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections, Abnormal hair morphology |
ORPHA:345 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
Ectodermal Dysplasia 5, Hair/Nail Type |
|
Sparse scalp hair, Hair-nail ectodermal dysplasia, Dystrophic fingernails, Absent toenail |
OMIM:614927 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Concave nail, Erythema, Atopic dermatitis, Palmoplantar scaling skin, Scaling skin, Dry skin |
ORPHA:530838 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair, Juvenil... |
OMIM:618625 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Sensorineural hearing impairment, Coarse hair, Sparse hair, Hidrotic ectodermal dys... |
ORPHA:1883 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Rodrigues Blindness |
|
Sclerocornea, Fine hair, Microcornea, Protruding ear, Ectodermal dysplasia, Sparse hair, Micropht... |
OMIM:268320 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Pruritus, Dry skin, Scaling skin |
OMIM:105250 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Nail dystrophy, Ichthyosis |
ORPHA:79503 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
Otoonychoperoneal Syndrome |
|
Posteriorly rotated ears, Abnormality of the ear, Low-set ears, Prominent superior crus of antihe... |
OMIM:259780 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry skin |
OMIM:129490 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis, Bitot spots of the conjunctiva |
OMIM:277350 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Peeling Skin Syndrome 3 |
|
Pruritus, Erythema, Abnormal hair morphology, White scaling skin |
OMIM:616265 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Pruritus, Erythema, Skin ulcer, Dry skin, Abnormality of the nail |
ORPHA:2584 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Erythema, Skin ulcer |
ORPHA:2337 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Nai... |
ORPHA:2890 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin |
ORPHA:2271 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia |
ORPHA:79129 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
Macdermot-Winter Syndrome |
|
Posteriorly rotated ears, Highly arched eyebrow, Low anterior hairline, Frontal upsweep of hair, ... |
OMIM:247990 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
Ichthyosis, X-Linked |
|
Congenital ichthyosiform erythroderma, Palmoplantar keratoderma, Opacification of the corneal str... |
OMIM:308100 |
Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... |
OMIM:613953 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Erythrokeratodermia Variabilis |
|
Alopecia, Cataract, Skin rash, Corneal opacity, Abnormal hair morphology, Erythema, Patchy palmop... |
ORPHA:317 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp... |
ORPHA:2200 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
Huriez Syndrome |
|
Dry skin, Abnormality of the nail, Lack of skin elasticity, Small nail |
ORPHA:384 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
Epidermolytic Palmoplantar Keratoderma |
|
Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar h... |
ORPHA:2199 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair, Ectodermal dysplasia |
ORPHA:401911 |
Myeloproliferative Disease, Autosomal Recessive |
|
Reduced leukocyte alkaline phosphatase |
OMIM:254700 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Pruritus, Onycholysis, Scaling skin, Nail dystrophy, Erythroderma |
OMIM:270300 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk... |
ORPHA:498359 |
Peeling Skin Syndrome 6 |
|
Pruritus, Scaling skin, Dry skin, Atopic dermatitis |
OMIM:618084 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Abnormal pinna morphology, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Sca... |
ORPHA:35173 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia |
ORPHA:2574 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Hair-nail ectodermal dysplasia, Abno... |
OMIM:614929 |
Acquired Ichthyosis |
|
Pruritus, Erythema, Recurrent skin infections, Dry skin |
ORPHA:454 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... |
OMIM:224750 |
Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
Immunoerythromyeloid Hypoplasia |
|
Absent leukocyte alkaline phosphatase |
OMIM:242880 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Hyperhidrosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosif... |
OMIM:613576 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythema, Follicu... |
OMIM:308800 |
Porphyria Cutanea Tarda |
|
Alopecia, Onycholysis, Facial hypertrichosis, Cutaneous photosensitivity, Fragile skin |
OMIM:176100 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronch... |
OMIM:618282 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Cataract, Alopecia of scalp |
OMIM:136300 |
Epidermolytic Hyperkeratosis 1 |
|
Scaling skin, Erythroderma |
OMIM:113800 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, Orthokeratotic hyperke... |
OMIM:148700 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Abnorma... |
ORPHA:89838 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Alopecia, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyp... |
ORPHA:79395 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair, Pili torti |
OMIM:607903 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
11P15.4 Microduplication Syndrome |
|
Synophrys, Macrotia, Posteriorly rotated ears, Highly arched eyebrow |
ORPHA:300305 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... |
OMIM:601952 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia, Premature skin wrinkling |
OMIM:601349 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Abnormal testis morphology, Sparse body hair, Apla... |
ORPHA:202 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Dry skin |
ORPHA:1954 |
Uv-Sensitive Syndrome 3 |
|
Dry skin |
OMIM:614640 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Winchester Syndrome |
|
Corneal opacity, Hirsutism |
OMIM:277950 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Acrogeria |
|
Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Fine hair, Excessive wrinkle... |
ORPHA:2500 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Microcornea, Iris coloboma, Follicular hyperkeratosis |
OMIM:615147 |
Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
Erythema Nodosum, Familial |
|
Erythema nodosum, Erythema |
OMIM:132990 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Ichthyos... |
ORPHA:312 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Abnormality of... |
ORPHA:90368 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Skin ulcer, Arthritis |
ORPHA:231 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Woolly hair, Microcorn... |
OMIM:234050 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Ectodermal dysplasia, Nail dystrophy, Scaling skin, Sparse hair... |
OMIM:604536 |
Otoonychoperoneal Syndrome |
|
Underfolded helix, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphology, Popliteal p... |
ORPHA:2793 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse e... |
OMIM:129500 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Hypohidrosis, Microcor... |
ORPHA:1806 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern... |
ORPHA:79147 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Dermoodontodysplasia |
|
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Dry skin, Toenail dysplasia, Sparse bod... |
ORPHA:1660 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
Neutrophilia, Hereditary |
|
Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia |
OMIM:251505 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Cataract, Corneal dystrophy, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:1839 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perianal erythema, Pustule, Paronychia, Perioral erythema, Erythroderma, Blepharitis, Onychogryposis |
OMIM:614328 |
Lamellar Ichthyosis |
|
Pruritus, Lack of skin elasticity, Sparse hair, Erythroderma, Chronic otitis media, Dry skin, Abn... |
ORPHA:313 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Patchy alopecia, Thickened skin |
OMIM:247100 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... |
OMIM:619208 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Abnormal pinna morphology, Coarse hair, Nail dystrophy |
ORPHA:75389 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... |
OMIM:300918 |
Ameloonychohypohidrotic Syndrome |
|
Dry skin, Onycholysis, Seborrheic dermatitis |
OMIM:104570 |
Pierpont Syndrome |
|
Excessive wrinkling of palmar skin, Posteriorly rotated ears, Uplifted earlobe, Abnormal subcutan... |
ORPHA:487825 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Choroidal Atrophy-Alopecia Syndrome |
|
Glue ear, Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or ... |
ORPHA:1433 |
Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Eczema |
ORPHA:2101 |
Paget Disease Of Bone 4 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:606263 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:617571 |
Verrucous Hemangioma |
|
Hyperkeratotic papule |
ORPHA:464318 |
Ring Chromosome 6 Syndrome |
|
Macrotia, Low posterior hairline |
ORPHA:1448 |
Warburg Micro Syndrome 1 |
|
Developmental cataract, Microcornea, Low-set ears, Facial hypertrichosis, Microphthalmia, Macroti... |
OMIM:600118 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Björnstad Syndrome |
|
Alopecia, Sensorineural hearing impairment, Brittle hair |
ORPHA:123 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Ridged nail, Alopecia, Cataract, Supernumerary nipple, Keratitis, Erythe... |
OMIM:308300 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis |
OMIM:227260 |
Gómez-López-Hernández Syndrome |
|
Toenail dysplasia, Alopecia of scalp, Corneal opacity, Low-set ears |
ORPHA:1532 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C... |
OMIM:219200 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin |
OMIM:275120 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hyperkeratosis, Plantar hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis |
ORPHA:79399 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Ichthyosis With Confetti |
|
Pruritus, Hypoplastic nipples, Scaling skin, Erythroderma, Hypertrichosis |
OMIM:609165 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... |
OMIM:616099 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Erythroderma, Abnormality of the nail |
ORPHA:2897 |
Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor... |
ORPHA:494 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis |
OMIM:606445 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
High anterior hairline, Low alkaline phosphatase, Sparse lateral eyebrow |
OMIM:618879 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Uv-Sensitive Syndrome 1 |
|
Dry skin |
OMIM:600630 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Macrotia, Anophthalmia, Abnormality of the ear |
OMIM:600776 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Skin vesi... |
OMIM:613102 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Urticaria, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fing... |
ORPHA:2251 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Corneal scarring, Hypohidrosis, Absent p... |
OMIM:148210 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Ectodermal dysplasia, Facial telangiectasia, Sparse hair, Aplasia/Hypoplasia of the eye... |
ORPHA:50944 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Alopecia, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Spar... |
OMIM:242300 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Pruritis on hand... |
ORPHA:90280 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Corneal opacity, Ichthyosis |
ORPHA:281090 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Ectopia lentis, Hypoplastic toenails... |
ORPHA:2325 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Osteomyelitis, Generalized hirsutism, Skin ulcer |
ORPHA:2218 |
Trisomy 4P |
|
Low-set, posteriorly rotated ears, Abnormal hair pattern, Low anterior hairline, Abnormal antihel... |
ORPHA:1738 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti |
ORPHA:1573 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Fetal Hydantoin Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Hearing abnormality, Low posterior ... |
ORPHA:1912 |
Tyrosinemia Type 2 |
|
Corneal opacity, Hyperhidrosis, Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail |
ORPHA:28378 |
Netherton Syndrome |
|
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology,... |
ORPHA:634 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Cutis laxa, Alopecia of scalp, Sc... |
ORPHA:2269 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Cataract, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Faci... |
OMIM:612843 |
Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Low anterior hairline, Coarse hair, Astigmatism, Conductive hearing impairment, Gen... |
ORPHA:2095 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Macrotia, Cataract, Highly arched eyebrow |
OMIM:616154 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Anhidrosis, Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Hypohidrosis, Hyperke... |
OMIM:242100 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Macrotia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Heari... |
ORPHA:2850 |
Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Absent eyebrow, Posteriorly rotated ears, Fine hair, Low-set ears, Sparse hair |
OMIM:615278 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Central heterochromia, Long eyebrows, Long eyelashes, Sparse hair |
OMIM:275400 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, Coarse hair, Hearing impairment |
OMIM:616351 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Cataract, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Opacification of the corne... |
OMIM:158310 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... |
OMIM:269400 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Cataract, Alopecia totalis, Lack of skin elasticity |
ORPHA:1366 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Hypohidrosis, Dystrophic fingernails, Dys... |
ORPHA:1882 |
Deafness, X-Linked 7 |
|
Posteriorly rotated ears, Unilateral microphthalmos, Atresia of the external auditory canal, Sten... |
OMIM:301018 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Aicardi-Goutieres Syndrome 5 |
|
Scaling skin, Dry skin, Chilblains |
OMIM:612952 |
Ramon Syndrome |
|
Hyperkeratosis, Abnormal anterior chamber morphology, Generalized hirsutism |
ORPHA:3019 |
Bathing Suit Ichthyosis |
|
Alopecia, Palmoplantar scaling skin, Nail dystrophy, Scaling skin, Erythroderma, Sparse hair |
ORPHA:100976 |
Galloway-Mowat Syndrome 9 |
|
Coarse hair, Macrotia, Low-set ears |
OMIM:619603 |
Intellectual Developmental Disorder, X-Linked 45 |
|
Macrotia, Protruding ear |
OMIM:300498 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
Chilblain Lupus 2 |
|
Cutaneous photosensitivity, Chilblains |
OMIM:614415 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Brittle hair, Trichoschisis, Dry skin, Protruding ear, Microcornea, Fine hair, Keratoco... |
OMIM:601675 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Juvenile cataract, Macrotia, Highly arched eyebrow |
ORPHA:438178 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Cataract, Hyperkeratosis, Abnormal cornea morphology, Iris coloboma |
ORPHA:2611 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... |
ORPHA:79151 |
Phenylketonuria |
|
Fair hair, Dry skin, Eczema |
OMIM:261600 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis |
OMIM:607936 |
Progeroid Syndrome, Petty Type |
|
Low-set, posteriorly rotated ears, Reduced subcutaneous adipose tissue, Brittle hair, Prematurely... |
ORPHA:2963 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital... |
OMIM:607602 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... |
ORPHA:1818 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis |
OMIM:613943 |
Mucopolysaccharidosis, Type Iiib |
|
Synophrys, Coarse hair, Hirsutism, Hearing impairment |
OMIM:252920 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair |
ORPHA:2985 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fine hair, Fragile nails, Hearing impairment |
ORPHA:500166 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Premature skin wrinkling, Sensorineural hearing impairment, Low-set ears |
OMIM:617950 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Microcornea, Follicular hyperkeratosis |
ORPHA:300179 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Alopecia, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosu... |
OMIM:616576 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Sparse eyebrow, Dry skin, Onychogryposis of toenails |
OMIM:600906 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythema, Scaling s... |
ORPHA:79481 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma |
ORPHA:330064 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Skin fragility with non-scarring blistering, Nail dystrophy, Nail dysplasia, Cutaneous ... |
ORPHA:79397 |
Mucopolysaccharidosis, Type Iiia |
|
Synophrys, Coarse hair, Hirsutism, Hearing impairment |
OMIM:252900 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary |
OMIM:241090 |
Complex Regional Pain Syndrome |
|
Abnormality of hair growth, Erythema, Slow-growing nails, Dry skin |
ORPHA:83452 |
Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
Sjögren-Larsson Syndrome |
|
Hyperkeratosis, Corneal erosion, Ichthyosis |
ORPHA:816 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hyperkeratosis, Onycholysis, Pterygium |
ORPHA:525 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon |
OMIM:609218 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Decreased... |
OMIM:616829 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Microphthalmia, Anophthalmia, Iris coloboma |
OMIM:616428 |
Epidermolysis Bullosa, Junctional 5A, Intermediate |
|
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... |
OMIM:619816 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Cutaneous photosensitivity, Low-set ears |
OMIM:616570 |
Weaver Syndrome |
|
Low-set, posteriorly rotated ears, Deep-set nails, Abnormal fingernail morphology, Thin nail, Red... |
ORPHA:3447 |
Sézary Syndrome |
|
Alopecia, Pruritus, Nail dystrophy, Erythroderma, Dry skin |
ORPHA:3162 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Splenomegaly, Rhinitis, Generalized hi... |
ORPHA:93476 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Macrotia, Cataract, Posteriorly rotated ears |
OMIM:618392 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis,... |
OMIM:615821 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Abnormality of the e... |
OMIM:225060 |
Mucopolysaccharidosis, Type Iiic |
|
Hearing impairment, Synophrys, Coarse hair, Hirsutism, Hypertrichosis |
OMIM:252930 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Thick hair, Redundant skin, Abnormal subcutaneous fat tissue distribution, P... |
ORPHA:357074 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Anteverted ears, Synophrys, Macrotia |
OMIM:615541 |
Keratolytic Winter Erythema |
|
Pustule, Erythema |
ORPHA:50943 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Sensorineural hearing impairment, Microphthalmia, Posterior embryotoxo... |
ORPHA:1473 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Rhinitis, P... |
OMIM:614941 |
Immunodeficiency 104 |
|
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... |
OMIM:608971 |
Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity, Sensorineural hearing impairment, Coarse hair, Thick eyebrow |
ORPHA:585 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Protruding ear, Developmental cataract, Cutis laxa, Low-set ears, Premature skin... |
OMIM:616603 |
Familial Melanoma |
|
Abnormal hair morphology, Dry skin |
ORPHA:618 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Brittle hair, Tiger tail banding, Dry skin, Slow-growing hair |
OMIM:616943 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Astigmatism, Microphthalmia, Macrotia, Sparse lateral eyebrow |
OMIM:619694 |
Riddle Syndrome |
|
Dry skin |
OMIM:611943 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, T... |
OMIM:607823 |
Ataxia-Photosensitivity-Short Stature Syndrome |
|
Dry skin |
ORPHA:1184 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
X-Linked Intellectual Disability, Porteous Type |
|
Macrotia, Cupped ear, Frontal balding |
ORPHA:93945 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Dermatofibrosarcoma Protuberans |
|
Erythema, Skin ulcer |
ORPHA:31112 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Keratitis, Pruritus, Erythroderma, Abnormality of the nail |
ORPHA:79394 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:133200 |
Abruzzo-Erickson Syndrome |
|
Macrotia, Hearing impairment, Protruding ear |
OMIM:302905 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Ectodermal dysplasia, Thin eyebrow |
OMIM:617392 |
Adams-Oliver Syndrome 4 |
|
Hypoplastic toenails, Microphthalmia, Toenail dysplasia, Cutis marmorata |
OMIM:615297 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm... |
OMIM:144200 |
Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Low-set ears, Microphthalmia, Ocular anterior segment dysgenesis, Macr... |
OMIM:615145 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Sparse body hair |
ORPHA:79402 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, High anterior hairline, Dry skin, Fragile nails |
OMIM:617364 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Arthritis, Crohn's disease |
ORPHA:69126 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Atrichia, Nail dystrophy, ... |
ORPHA:1867 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Low-set, posteriorly rotated ears, Macrotia |
ORPHA:2487 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Coarse hair |
ORPHA:1185 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
Transaldolase Deficiency |
|
Telangiectasia, Anemia, Hepatosplenomegaly, Cirrhosis, Premature skin wrinkling, Thrombocytopenia |
ORPHA:101028 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Intellectual Disability, Wolff Type |
|
Macrotia, Hypoplastic superior helix, Abnormality of the nail, Low posterior hairline |
ORPHA:3080 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Ifap Syndrome 2 |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Perioral erythema, Spa... |
OMIM:619016 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Macrotia, Low anterior hairline |
OMIM:617090 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma |
OMIM:146590 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, ... |
ORPHA:3051 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Skin ulcer |
ORPHA:409 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Iris coloboma, Anteverted ears |
OMIM:300915 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Sparse hair, Widow's peak, Thick eyebrow |
OMIM:606242 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Cheilitis, Ski... |
ORPHA:37 |
Porphyria Cutanea Tarda, Type I |
|
Fragile skin, Hepatic fibrosis, Eczema, Hypertrichosis |
OMIM:176090 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cutaneous photosensitivity, Cataract |
OMIM:278780 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Dry skin, Low posterior hairline, Premature graying of hair, Alopecia of ... |
ORPHA:2617 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Hall-Riggs Syndrome |
|
Coarse hair, Slow-growing hair, Thick hair |
ORPHA:2107 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Dry skin, Co... |
ORPHA:163934 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Erythema, Septic arthritis |
ORPHA:36237 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Harlequin Ichthyosis |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma, Cataract, Ichthyosis |
ORPHA:457 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Limbal stem cell deficiency, Nail dystrophy, Follicular ... |
OMIM:615225 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair |
OMIM:614940 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Alopecia, Lack of facial subcutaneous fat, Erythema, Scaling... |
ORPHA:90156 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Macrotia, Cataract, Low-set ears |
ORPHA:3433 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Cataract, Sensorineural hearing impairment, Coarse hair, Nail dysplasia, Low-set ears, Bruising s... |
OMIM:612394 |
Intellectual Developmental Disorder, X-Linked 9 |
|
Macrotia |
OMIM:309549 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Bone Marrow Failure Syndrome 4 |
|
Dry skin, Eczema |
OMIM:618116 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Large fleshy ears, Alopecia |
OMIM:203550 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia,... |
OMIM:615704 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Developmental cataract, Sparse hair, Microphthalmia, Cutaneous photosensitivity, Hearin... |
OMIM:610756 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair, Cataract |
OMIM:118650 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Premature skin wrinkling, Frontal balding |
ORPHA:1942 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Distal Duplication 6P |
|
Abnormal hair quantity, Cataract, Abnormal eyelash morphology, Aplasia/Hypoplasia of the earlobes... |
ORPHA:1745 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy |
ORPHA:89843 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin, Erythema |
ORPHA:90160 |
Omenn Syndrome |
|
Alopecia, Pneumonia, Pruritus, Thyroiditis, Erythroderma, Dry skin, Aplasia/Hypoplasia of the eye... |
ORPHA:39041 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma |
OMIM:614497 |
Forsythe-Wakeling Syndrome |
|
Macrotia, Low-set ears |
OMIM:613606 |
Adiposis Dolorosa |
|
Recurrent skin infections, Sparse axillary hair, Sparse pubic hair, Arthritis, Dry skin |
ORPHA:36397 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma, Hearing impairment |
OMIM:120433 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Short Syndrome |
|
Posterior embryotoxon, Alopecia, Corneal opacity, Abnormal pupil morphology, Sensorineural hearin... |
ORPHA:3163 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
Proteus Syndrome |
|
Limbal dermoid, Hyperkeratosis |
OMIM:176920 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No... |
ORPHA:87503 |
Bazex Syndrome |
|
Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Acanthosis... |
ORPHA:166113 |
Diamond-Blackfan Anemia 21 |
|
Cutis marmorata, Synophrys, Widow's peak, Protruding ear, Coarse hair, Horizontal eyebrow, Low-se... |
OMIM:620072 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... |
ORPHA:2228 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Sparse body hair, Thin skin |
ORPHA:1810 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Erythroderma |
OMIM:618840 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Dry skin, Scaling skin, Nail dystrophy, Alopecia of scalp |
OMIM:618373 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Hyperkeratosis, Coloboma, Ichthyosis, Hypertrichosis |
OMIM:612379 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Dry skin, Sparse body hair |
ORPHA:177 |
Naxos Disease |
|
Sparse scalp hair, Curly hair, Abnormality of hair texture, Vertigo, Woolly hair |
ORPHA:34217 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Hypoplastic toenails, Macrotia, Protruding ear |
ORPHA:2013 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Hypohidrosis, Nai... |
OMIM:617337 |
Short Syndrome |
|
Rieger anomaly, Cataract, Prominent superficial veins, Sensorineural hearing impairment, Prematur... |
OMIM:269880 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy |
OMIM:619692 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Thin nail, Hypergranulosis, Sho... |
OMIM:257980 |
Lichen Planus Pemphigoides |
|
Hyperkeratosis, Conjunctivitis |
ORPHA:254478 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Anhidrosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyo... |
OMIM:606545 |
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616917 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Highly arched eyebrow, Prematurely... |
ORPHA:1807 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Dry skin, Scaling skin, Erythroderma |
OMIM:612281 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hypohidrosis, Hyperkeratosis, On... |
ORPHA:1028 |
Superficial Epidermolytic Ichthyosis |
|
Ichthyosis, Palmoplantar keratoderma, Acantholysis |
ORPHA:455 |
Chops Syndrome |
|
Curly hair, Cataract, Thick hair, Synophrys, Coarse hair, Long eyelashes, Thickened helices, Thic... |
OMIM:616368 |
Osteosclerotic Metaphyseal Dysplasia |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615198 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Low-set ears, Microphthalmia, Overfo... |
OMIM:619339 |
Pachyonychia Congenita 1 |
|
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis |
OMIM:167200 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Macrocephaly/Autism Syndrome |
|
Recurrent otitis media, Coarse hair, Cutis laxa |
OMIM:605309 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Skin ulcer, Fine hair, ... |
ORPHA:978 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:620148 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating alanine a... |
OMIM:619658 |
Xeroderma Pigmentosum Variant |
|
Keratitis, Dry skin |
ORPHA:90342 |
Copper Deficiency, Familial Benign |
|
Curly hair, Early balding, Seborrheic dermatitis |
OMIM:121270 |
Netherton Syndrome |
|
Sparse scalp hair, Brittle hair, Recurrent skin infections, Allergic rhinitis, Eczema, Brittle sc... |
OMIM:256500 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Premature graying of hair, Excessive wrinkling of palmar skin, Alopecia of scalp, Abnormally larg... |
OMIM:210700 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Skin rash, Maculopapular exanthema, Pruritus, Splenomegaly, Lymphadenopathy, Darier... |
ORPHA:98848 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic... |
ORPHA:2701 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Hearing impair... |
OMIM:610023 |
Sulfite Oxidase Deficiency, Isolated |
|
Macrotia, Fine hair, Ectopia lentis |
OMIM:272300 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Cutis marmorata, Absent eyel... |
ORPHA:69735 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Dermal translucency, Posteriorly rotated ears, Optic nerve hypoplasia, Highly arched ... |
OMIM:617506 |
Prolidase Deficiency |
|
Abnormal fingernail morphology, Pruritus, Crusting erythematous dermatitis, Erythema, Low anterio... |
ORPHA:742 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
Trisomy 20P |
|
Low-set, posteriorly rotated ears, Thick hair, Highly arched eyebrow, Low anterior hairline, Prot... |
ORPHA:261318 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Macrotia |
OMIM:300928 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Aplasia/Hypoplasia of the eyebrow, ... |
ORPHA:238468 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Prominent superficial veins, Cataract, Posteriorly rotated ears, Prominent ear helix, Development... |
OMIM:614438 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
Ichthyosis Prematurity Syndrome |
|
Pruritus, Alopecia of scalp, Allergic rhinitis, Erythroderma |
OMIM:608649 |
Chromosome 3Q29 Deletion Syndrome |
|
Macrotia, Posteriorly rotated ears, Low-set ears |
OMIM:609425 |
Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... |
ORPHA:2309 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Erythroderma |
ORPHA:280785 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Posteriorly rotated ears, Sparse eyelashes, Low-set ears, Microphthalmia |
OMIM:613456 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Pyoderma gangrenosum, Sterile arthritis, Arthritis, Colitis, Cystic acne |
OMIM:604416 |
Acrokeratoelastoidosis Of Costa |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratotic papule, Palmar hyper... |
ORPHA:38 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Abnormality of cartilage of external ear, Abnormal eyelash morphology,... |
ORPHA:2399 |
Squalene Synthase Deficiency |
|
Posteriorly rotated ears, Optic nerve hypoplasia, Abnormality of hair pigmentation, Dry skin, Cut... |
OMIM:618156 |
Eec Syndrome |
|
Slow-growing hair, Keratitis, External ear malformation, Corneal erosion, Abnormality of the inne... |
ORPHA:1896 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Cataract, Sensorineural hearing impairment, Thin eyebrow... |
ORPHA:3242 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... |
ORPHA:83461 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis |
OMIM:618531 |
Amyotrophic Lateral Sclerosis 20 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615426 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hypohidrosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, ... |
OMIM:615023 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Pruritus, Cheilitis, Leukonychia, Onycholysis, Scaling skin, Dry skin |
OMIM:616295 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal hair pattern, Synophrys, Low posterior hairline, Coar... |
ORPHA:1394 |
Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Erythema, Malar rash,... |
ORPHA:330058 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Protruding ear, Hyperco... |
ORPHA:1071 |
Lelis Syndrome |
|
Yellow nails, Absent lower eyelashes, Palmoplantar hyperkeratosis, Hypohidrosis, Sparse hair, Nai... |
ORPHA:140936 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:2528 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Facial erythema... |
ORPHA:1010 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Prematurely aged appearance, Low posterior hairline,... |
ORPHA:1387 |
Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Sparse eyelashes, Sparse eyebrow, Abnormal tragu... |
ORPHA:66625 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow |
ORPHA:79133 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Skin ulcer, Recurrent sinusiti... |
ORPHA:217390 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Corneal scarring, Hypohidrosis, Hyperkeratosis, Frontal upsweep of hair, Broad eyebrow |
OMIM:301220 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Telangiectasia, Livedo, Onycholysis, Nail dystrophy, Facial ... |
OMIM:614564 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Pierpont Syndrome |
|
Posteriorly rotated ears, Microcornea, Large fleshy ears, Microphthalmia, High anterior hairline,... |
OMIM:602342 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Optic nerve hypoplasia, Progeroid facial appearance, Cutis marmo... |
OMIM:300953 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Long eyelashes, ... |
ORPHA:3363 |
Cutaneous Collagenous Vasculopathy |
|
Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis... |
ORPHA:280779 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Rafiq Syndrome |
|
Highly arched eyebrow, Long eyebrows, Sparse eyebrow, Cutis laxa, Low-set ears, Macrotia, Broad e... |
OMIM:614202 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Spinocerebellar Ataxia Type 34 |
|
Dry skin |
ORPHA:1955 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand, Pruritis on b... |
ORPHA:64745 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Lymphatic Malformation 4 |
|
Hyperkeratosis, Toenail dysplasia |
OMIM:615907 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Thickened skin, Ocular albinism, Hyperkeratosis, Iris hypopig... |
ORPHA:79431 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Mcdonough Syndrome |
|
Low-set, posteriorly rotated ears, Synophrys, Macrotia, Protruding ear |
ORPHA:2471 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Pruritus, Splenomegaly, Hyperhidrosis, Lymphadenopathy |
ORPHA:86893 |
Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
Acrofacial Dysostosis, Catania Type |
|
Low-set, posteriorly rotated ears, Coarse hair, Abnormal hair pattern |
ORPHA:1786 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
White scaling skin, Erythroderma |
OMIM:604777 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nail pits, Alopecia of... |
OMIM:103285 |
Atelis Syndrome 1 |
|
Dry skin, Eczema, Bronchiectasis |
OMIM:620184 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Monosomy 18P |
|
Alopecia, Protruding ear, Low posterior hairline, Abnormal antihelix morphology, Microphthalmia, ... |
ORPHA:1598 |
Martsolf Syndrome 2 |
|
Macrotia, Cataract, Developmental cataract |
OMIM:619420 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant... |
OMIM:605676 |
Barber-Say Syndrome |
|
Dermal translucency, Absent nipple, Sparse eyelashes, Redundant skin, Extra concha fold, Sparse e... |
OMIM:209885 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Cataract, Sparse eyelashes, Palmoplantar hyperkeratosis, Hyperhidrosi... |
OMIM:615280 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Macrotia |
ORPHA:397933 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Acquired Partial Lipodystrophy |
|
Generalized hirsutism, Progeroid facial appearance, Hearing impairment |
ORPHA:79087 |
Charlie M Syndrome |
|
Abnormal toenail morphology, Macrotia, Abnormal fingernail morphology |
ORPHA:1406 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis |
OMIM:609638 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Curly hair, Hyperhidrosis |
OMIM:615279 |
Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas... |
OMIM:619484 |
Van Buchem Disease |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:239100 |
Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Acantholysis |
ORPHA:2841 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Macrotia, Astigmatism, Frontal upsweep of hair |
OMIM:619797 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Juvenile cataract, Sparse hair |
ORPHA:1264 |
Auriculoosteodysplasia |
|
Attached earlobe, Macrotia, Aplasia/Hypoplasia of the earlobes |
ORPHA:114 |
White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Follicular hyperkeratosis |
OMIM:613736 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis |
OMIM:602723 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse eyebrow, Protruding ear, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:619691 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
Peroxisome Biogenesis Disorder 14B |
|
Dry skin |
OMIM:614920 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Alopecia, Palmoplantar keratoderma, Conjunctivitis, Ichthyosis, Sparse hair, Fragile... |
OMIM:242150 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Alg8-Cdg |
|
Cataract, Abnormality of subcutaneous fat tissue, Cutis laxa, Low-set ears, Premature skin wrinkling |
ORPHA:79325 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Foot osteomyelitis, Acral ulceration, Skin ulcer |
ORPHA:139578 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Macrotia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Posteriorly rotated ears, Corneal opacity, Keratitis, Synophrys, Microtia, Conjunctivitis, Recurr... |
OMIM:602562 |
Schimke Immunoosseous Dysplasia |
|
Coarse hair, Astigmatism, Opacification of the corneal stroma, Fine hair |
OMIM:242900 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:329475 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Pruritus, Sparse eyebrow, Sclerosing cholangitis, Sparse ... |
OMIM:607626 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Patchy alopecia, Nail dystrophy, Fragile nails, Palmar hyperhidrosis |
OMIM:226650 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Thick hair, Cardiomegaly, Low anterior hairline, Cutis laxa, Sacral ... |
ORPHA:363705 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Rheumatoid arthritis, Skin ve... |
ORPHA:48104 |
Thyroid Dyshormonogenesis 1 |
|
Dry skin |
OMIM:274400 |
Alpha-Mannosidosis |
|
Cataract, Corneal opacity, Abnormal helix morphology, Chronic otitis media, Macrotia, Generalized... |
ORPHA:61 |
Darier Disease |
|
Acrokeratosis, Abnormal hair morphology, Thickened skin, Palmoplantar keratoderma, Abnormality of... |
ORPHA:218 |
Leopard Syndrome 2 |
|
Curly hair, Dry skin |
OMIM:611554 |
Fried Syndrome |
|
Macrotia, Hearing impairment |
ORPHA:85335 |
Hatipoglu Immunodeficiency Syndrome |
|
Fair hair, Eczema, Atopic dermatitis, Premature graying of hair, Recurrent otitis media, Dry skin... |
OMIM:620331 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Elevated circulating alkaline phosphatase concentration, Intrahepatic cholestasis, Jaundice, Chol... |
OMIM:605479 |
Warburg Micro Syndrome 3 |
|
Cataract, Low anterior hairline, Developmental cataract, Microcornea, Shallow anterior chamber, M... |
OMIM:614222 |
Idiopathic Localized Lipodystrophy |
|
Pruritus, Inflammatory abnormality of the skin, Erythema, Scaling skin |
ORPHA:90158 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer |
OMIM:604571 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Abnormal hair whorl, Synophrys, Low posterior hairline, Nail dystrophy, Dry skin, Hirsutism |
OMIM:300860 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Cataract, Corneal opacity, Skin rash, Splenomegaly, Thrombocytopenia, Jaundice, Apl... |
ORPHA:290 |
Chung-Jansen Syndrome |
|
Large earlobe, Synophrys, Macrotia, Thick eyebrow |
OMIM:617991 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Skin ulcer, Arthritis, Ot... |
ORPHA:229717 |
Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Synophrys, Coarse hair, Astigmatism, Long eyelashes, Hypoplastic nipples, Low-set ear... |
OMIM:618268 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Cutis marmorata, Low anterior hairline, Protruding ear, Developmental cataract, Low-set... |
OMIM:614219 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Elbow hypertrichosis, Dry skin, Long eyelashes, Eczema |
OMIM:620191 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Macrotia |
OMIM:616269 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Juvenile Hyaline Fibromatosis |
|
Abnormal hair morphology, Skin ulcer |
ORPHA:2028 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Atopic dermatitis, T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor e... |
OMIM:618806 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Coffin-Siris Syndrome 8 |
|
Sparse scalp hair, Eczema, Cryptorchidism, Long eyelashes, Thick eyebrow, Hypertrichosis |
OMIM:618362 |
Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Prematurely aged appearance, Telangiectasia of the skin, Abnormal testi... |
ORPHA:100 |
Mucolipidosis Type Iv |
|
Palmoplantar keratoderma, Corneal opacity |
ORPHA:578 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Myocarditis, Erythema, Hepatitis, Thyroiditis, Tubulointerstitial nephritis, ... |
ORPHA:139402 |
Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair |
ORPHA:85274 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia, Cataract, Abnormality iris morphology |
ORPHA:1617 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Protruding ear, Ectodermal dysplasia, Dystrophic toen... |
ORPHA:3253 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Dry skin |
OMIM:610768 |
Mycosis Fungoides |
|
Pruritus, Erythema, Psoriasiform dermatitis, Eczema |
OMIM:254400 |
Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Dry skin |
OMIM:275100 |
Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:1006 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic... |
OMIM:618131 |
Cog7-Cdg |
|
Excessive wrinkled skin, Hepatomegaly, Jaundice, Hepatosplenomegaly |
ORPHA:79333 |
Acral Peeling Skin Syndrome |
|
Scaling skin, Erythema, Eczema, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
Kid Syndrome |
|
Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Recurrent cutaneous fungal ... |
ORPHA:477 |
Fucosidosis |
|
Hyperhidrosis, Generalized hyperkeratosis, Abnormality of the nail, Corneal opacity |
ORPHA:349 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:174050 |
Trichothiodystrophy 3, Photosensitive |
|
Cataract, Brittle hair, Developmental cataract, Low-set ears, Microphthalmia, Tiger tail banding,... |
OMIM:616395 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Thyroiditis, Erythroderma, Patchy alopecia, Scaling skin, Chroni... |
OMIM:606367 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair, Posterior Y-sutural cataract |
ORPHA:50814 |
Irida Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:209981 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Skin rash, Hepatomegaly |
OMIM:619175 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Prominent superficial blood vessels, Cataract, Cutis laxa, Corneal arcus, Low-set ears, Sparse ha... |
OMIM:219150 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Erythema, Rheumatoid arthritis |
ORPHA:79099 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Low posterior hairline, Ab... |
ORPHA:85194 |
Intellectual Developmental Disorder, X-Linked 93 |
|
Macrotia, Cupped ear |
OMIM:300659 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Posteriorly rotated ears, Synophrys, Low posterior hairline, Low-set ears, Thin eyebrow, Sparse h... |
OMIM:619320 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Prominent superficial veins, Sensorineural hearing impairment, Fine hair, Sparse hair, Macrotia, ... |
OMIM:616817 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
15Q13.3 Microdeletion Syndrome |
|
Macrotia, Protruding ear |
ORPHA:199318 |
Mucopolysaccharidosis, Type Vii |
|
Thick eyebrow, Corneal opacity, Sensorineural hearing impairment, Coarse hair, Recurrent otitis m... |
OMIM:253220 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneu... |
OMIM:602450 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Rapp-Hodgkin Syndrome |
|
Decreased number of sweat glands, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Spar... |
OMIM:129400 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cataract, Sclerocornea, Sensorineural hearing impairment, Microcornea, Nail dysplas... |
ORPHA:139471 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Large fleshy ears, Synophrys, Abnormal pinna morphology, Horizontal eyebrow |
ORPHA:352530 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... |
OMIM:601214 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Warburg Micro Syndrome 2 |
|
Cataract, Asymmetry of the ears, Low anterior hairline, Developmental cataract, Microcornea, Micr... |
OMIM:614225 |
Jung Syndrome |
|
Dry skin, Low posterior hairline |
ORPHA:2321 |
Sialidosis Type 1 |
|
Hyperkeratosis, Cataract, Corneal opacity |
ORPHA:812 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Anonychia, Palmoplantar keratoderma, Nail dystrophy |
OMIM:616029 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Hypoplastic thumbnail, Abnormality of alkaline phosphatase level, Hypoplastic toenails, Hypoplast... |
OMIM:619356 |
Congenital Disorder Of Glycosylation, Type If |
|
Dry skin, Scaling skin, Erythroderma |
OMIM:609180 |
Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Coarse hair, Low-set ears, Cond... |
OMIM:130720 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Dry hair, Posteriorly rotated ears, Widow's peak, Coarse hair, Overfold... |
ORPHA:1974 |
Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Dermotrichic Syndrome |
|
Macrotia, Nail dystrophy, Hyperconvex toenail |
ORPHA:99688 |
Mucopolysaccharidosis Type 3 |
|
Mixed hearing impairment, Cataract, Corneal opacity, Thickened helices, Thick hair, Abnormality o... |
ORPHA:581 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos, Hirsutism, Simple ear |
OMIM:619318 |
Mucopolysaccharidosis, Type Iiid |
|
Thick eyebrow, Synophrys, Coarse hair, Low-set ears, Facial hirsutism, Recurrent otitis media, Hi... |
OMIM:252940 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Low anterior hairline, Low posterior hairline, Coarse hair, Long eyelashes, Hirsutism |
OMIM:617303 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Poor wound healing, Keratitis, Corneal scarring, Nail dystrophy, Recurrent cor... |
OMIM:256800 |
Cog5-Cdg |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Abnormality of the frontal hairline, ... |
ORPHA:263487 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Macrotia, Protruding ear |
OMIM:251240 |
Uremic Pruritus |
|
Pruritus, Inflammatory abnormality of the skin, Dry skin, Recurrent skin infections |
ORPHA:94059 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Dry skin |
OMIM:614450 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Macrotia, Iris coloboma |
ORPHA:66629 |
Reticular Dysgenesis |
|
Chronic otitis media, Skin rash, Skin ulcer |
ORPHA:33355 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Pr... |
ORPHA:79477 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Hypomelanosis Of Ito |
|
Alopecia, Cataract, Iris coloboma |
OMIM:300337 |
Abruzzo-Erickson Syndrome |
|
Sensorineural hearing impairment, Microcornea, Conductive hearing impairment, Macrotia, Iris colo... |
ORPHA:921 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Erythema, Skin ulcer |
ORPHA:542592 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Sparse eyebrow, Macrotia, Thick eyebrow |
OMIM:617268 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Jaundice, Sparse... |
ORPHA:59303 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Dermal translucency, Absent nipple, Poste... |
OMIM:612289 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Bresek Syndrome |
|
Alopecia, Optic nerve hypoplasia, Protruding ear, Low-set ears, Microphthalmia, Iris coloboma, He... |
ORPHA:85284 |
Cronkhite-Canada Syndrome |
|
Alopecia, Cataract, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Pat... |
ORPHA:2930 |
Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis |
OMIM:610227 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypergranulosis, Acantholysis, Palmoplantar keratoderma, Sparse hair, Ichthyosis, Orthokeratosis |
OMIM:615508 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Posteriorly rotated ears, Sparse medial eyebrow, Low... |
OMIM:601358 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Erythema |
ORPHA:90159 |
Lessel-Kubisch Syndrome |
|
Sparse pubic hair, Premature graying of hair |
OMIM:618681 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Skin rash, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Conjunctiviti... |
OMIM:603552 |
Distal Deletion 10P |
|
Low-set, posteriorly rotated ears, Abnormal fingernail morphology, Hypoplastic toenails, Hearing ... |
ORPHA:1580 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ... |
OMIM:235555 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Alopecia, General... |
OMIM:615559 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Recurrent otitis media, Synophrys, Macrotia |
ORPHA:589905 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Dry skin, Hypertrichosis, Onychauxis |
OMIM:262190 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, S... |
OMIM:300635 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair, Macrotia, Posteriorly rotated ears |
OMIM:619980 |
Cofs Syndrome |
|
Microphthalmia, Sensorineural hearing impairment, Cataract, Cutaneous photosensitivity |
ORPHA:1466 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
High-frequency sensorineural hearing impairment, Sparse scalp hair, Low-set ears, Fine hair |
ORPHA:2324 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Dry skin |
OMIM:268020 |
Histidinuria Due To A Renal Tubular Defect |
|
Hypoplastic toenails, Sensorineural hearing impairment, Macrotia |
OMIM:235830 |
Man1B1-Cdg |
|
Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Cutis laxa, Long eyelashes, Low-s... |
ORPHA:397941 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Anhidrosis, Alopecia, Abnormal fingernail morphology, Thickened skin, Palmoplantar keratoderma, P... |
ORPHA:659 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Cataract, Prematurely aged appearance, Progeroid facial ap... |
ORPHA:90153 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Acne inversa |
OMIM:608068 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Chronic m... |
ORPHA:98813 |
Norrie Disease |
|
Cataract, Corneal opacity, Sensorineural hearing impairment, Leukocoria, Hypoplasia of the iris, ... |
OMIM:310600 |
Allan-Herndon-Dudley Syndrome |
|
Prominent antihelix, Macrotia, Stahl ear, Underfolded superior helices |
OMIM:300523 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair, Ectodermal dysplasia |
OMIM:273390 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bilateral microphthalmos, Low anterior hairline, Frontal upsweep of hair, Horizontal eyebrow, Low... |
ORPHA:369891 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Prominent antihelix, Acrocyanosis, Macrotia, Long eyebrows |
OMIM:614407 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Urticaria, Arthritis, R... |
OMIM:611762 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Myopic astigmatism, Protruding ear, Microcornea, Astigmatism, Micropht... |
OMIM:152950 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Lymphopenia, Myositis, Skin rash, Cutis marmorata, Follicular hype... |
OMIM:615934 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Thrombocytopenia, Premature graying of hair, Ex... |
ORPHA:3322 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration |
OMIM:214900 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Corneal opacity, Redundant skin, Abnormal hair pattern, Absent eyelashes, Corneal... |
ORPHA:920 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Recurrent p... |
ORPHA:47 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Cataract, Corneal opacity, Low anterior hairline |
OMIM:613153 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f... |
OMIM:613489 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Alopecia, Anophthalmia |
OMIM:164180 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoplastic toenails, Sensorineural hearing impairment, Macrotia |
ORPHA:2158 |
Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium, Ichthyosis |
OMIM:270200 |
Otofaciocervical Syndrome |
|
Protruding ear, Abnormal antihelix morphology, Atresia of the external auditory canal, Conductive... |
ORPHA:2792 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Lymphade... |
OMIM:615387 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Sea-blue histiocytosis, Cirrhosis, Absent axillary hair, Thrombocytopenia |
OMIM:269600 |
Nance-Horan Syndrome |
|
Developmental cataract, Microcornea, Posterior Y-sutural cataract, Microphthalmia, Macrotia |
OMIM:302350 |
Paget Disease Of Bone 6 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616833 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Darier-White Disease |
|
Ridged nail, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis |
OMIM:124200 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Punctate cataract, Coarse hair, Posterior Y-sutural cataract, Sparse hair |
OMIM:607812 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Posteriorly rotated ears, Abnormal hair pattern, Highly arched eyebrow, Overfolded helix, Macrotia |
ORPHA:2083 |
Leopard Syndrome 3 |
|
Hyperkeratosis, Curly hair, Low posterior hairline, Epidermal hyperkeratosis |
OMIM:613707 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Macrotia, Cataract, Protruding ear |
OMIM:617481 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Cataract, Corneal opacity, Developmental cataract, Telangiectasia, Low-s... |
ORPHA:93400 |
Osteosarcoma |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... |
ORPHA:668 |
Incontinentia Pigmenti |
|
Uveitis, Hyperhidrosis, Abnormal toenail morphology, Infectious encephalitis, Abnormality of the ... |
ORPHA:464 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Attached earlobe, Juvenile cataract, Macrotia, Low-set ears |
ORPHA:436245 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Sparse eyelashes, Sparse eyebrow, Dry skin, Astigmatism, Low... |
OMIM:613026 |
Pachyonychia Congenita 3 |
|
Plantar hyperkeratosis, Onychogryposis of toenails, Hyperhidrosis, Palmoplantar keratoderma, Nail... |
OMIM:615726 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Lymphadenopathy, Urticaria, Arthri... |
ORPHA:37748 |
Noonan Syndrome 5 |
|
Curly hair, Sparse eyebrow, Fine hair, Small nail, Dry skin |
OMIM:611553 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Premature skin wrinklin... |
ORPHA:363618 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
ORPHA:337 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Corneal opacity, Thick hair, Progeroid facial appearance, Excessive wrinkled skin, Abnormal corne... |
ORPHA:357058 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal eyelash morpholog... |
ORPHA:381 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin |
OMIM:617066 |
Schuurs-Hoeijmakers Syndrome |
|
Highly arched eyebrow, Synophrys, Low anterior hairline, Long eyelashes, Low-set ears, Macrotia |
OMIM:615009 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Eczema, Sparse eyelashes, Concave nail, Absent eyela... |
OMIM:305100 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Alopecia, Abnormal antihelix morphology, Abnormal helix morpho... |
ORPHA:1005 |
Hajdu-Cheney Syndrome |
|
Cataract, Abnormal fingernail morphology, Synophrys, Low anterior hairline, Generalized hirsutism... |
ORPHA:955 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Widow's peak, Cupped ear, Low-set ears, Microphthalmia, Conjunctival hyperemia |
OMIM:167730 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Cednik Syndrome |
|
Sensorineural hearing impairment, Macrotia |
ORPHA:66631 |
Costello Syndrome |
|
Keratoconus, Deep-set nails, Abnormal fingernail morphology, Concave nail, Hypoplastic toenails, ... |
ORPHA:3071 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Dry skin, Broad eyebrow |
OMIM:619244 |
Erythema Elevatum Diutinum |
|
Skin vesicle, Skin rash |
ORPHA:90000 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Abnormal eyelash morphology, Sparse or absent eyelashes, Aplasia/Hypoplasia affe... |
ORPHA:1794 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dry skin, Dystrophic fingernails, Sparse body... |
OMIM:150400 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Dry skin, Scaling skin |
OMIM:614457 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Posteriorly rotated ears, Corneal dystrophy, Progeroid facial appearance, Patchy alopecia, Low-se... |
OMIM:617763 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Hepatomegaly, Decreased proportion of naive T cells, Skin ra... |
ORPHA:276 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Anteverted ears, Cutaneous photosensitivity, Macrotia |
ORPHA:544254 |
Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Palmopl... |
OMIM:167210 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Pruritus, Abnormal hair morphology, Paronychia, Skin ulcer, Ski... |
ORPHA:2314 |
Pemphigus Vulgaris |
|
Acantholysis |
ORPHA:704 |
Kbg Syndrome |
|
Abnormal hair pattern, Synophrys, Bilateral conductive hearing impairment, Macrotia, Thick eyebrow |
ORPHA:2332 |
Lipoid Proteinosis |
|
Hyperkeratosis, Alopecia of scalp, Thickened skin |
ORPHA:530 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Trichiasis, Hypohidrosis, Hyperkeratosis, Nuclear cataract, Nail dysplasia, Trich... |
OMIM:601701 |
Epidermodysplasia Verruciformis |
|
Pustule, Recurrent skin infections, Seborrheic dermatitis |
ORPHA:302 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Progeroid facial appearance, Sensorineural hearing impairment, Sparse facial hair, Sparse axillar... |
OMIM:608154 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Dry skin |
ORPHA:1035 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Hypoplastic fingernail, Microtia, third degree, Redundant skin, Absent eyelashes,... |
OMIM:200110 |
Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... |
OMIM:616622 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, Cheilitis, Hepatitis, Skin ulcer, ... |
ORPHA:1334 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Dorsocervical fat pad, Sensorineural hearing impairment, Synophrys, Low anterior hairline, Fine h... |
ORPHA:391408 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Sparse eyebrow, Leukonychia, Protruding ear, Sparse hair, Macrotia, Fragile nails |
ORPHA:77258 |
Radio-Tartaglia Syndrome |
|
Thick eyebrow, Highly arched eyebrow, Long eyebrows, Synophrys, Low anterior hairline, Hirsutism,... |
OMIM:619312 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Coffin-Siris Syndrome 7 |
|
Sparse scalp hair, Posteriorly rotated ears, Low-set ears, Hypoplastic fifth toenail, Recurrent o... |
OMIM:618027 |
Immunodeficiency 48 |
|
Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis |
OMIM:269840 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Macrotia |
ORPHA:319332 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Slow-growing hair, Abnormal hair morphology, Aplasia/Hypoplasia of the earlobes, Abnormal antihel... |
ORPHA:3082 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Dry ski... |
ORPHA:217346 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microcornea, Microphthalmia, Cataract |
OMIM:616171 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
Fg Syndrome 3 |
|
Sparse hair, Sensorineural hearing impairment, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microcornea, Microphthalmia, Cataract, Long eyelashes |
ORPHA:48431 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis |
OMIM:617443 |
Warty Dyskeratoma |
|
Abnormal fingernail morphology, Acrokeratosis, Epidermal thickening, Acantholysis |
ORPHA:69745 |
X-Linked Intellectual Disability, Najm Type |
|
Macrotia, Cataract, Optic nerve hypoplasia, Sensorineural hearing impairment |
ORPHA:163937 |
Zimmermann-Laband Syndrome |
|
Cataract, Sensorineural hearing impairment, Large fleshy ears, Long eyelashes, Absent fingernail,... |
ORPHA:3473 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Dry skin |
ORPHA:3085 |
Chromomycosis |
|
Keratitis, Hyperparakeratosis, Hyperkeratosis, Keratoconjunctivitis sicca, Hyperkeratotic papule |
ORPHA:182 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... |
ORPHA:3236 |
Prolidase Deficiency |
|
Hepatomegaly, Petechiae, Eczema, Splenomegaly, Thrombocytopenia, Crusting erythematous dermatitis... |
OMIM:170100 |
Holoprosencephaly 5 |
|
Synophrys, Macrotia |
OMIM:609637 |
Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Small nail, Dry skin |
OMIM:619075 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Dorsocervical fat pad, Bruising susceptibility, Fragile skin, Hirsutism |
OMIM:615830 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Macrotia |
OMIM:300934 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Cataract, Anhidrosis, Band keratopat... |
ORPHA:191 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Palmoplantar hyperkeratosis, Keratoconjunctivitis sicca, Follicular hyperkeratosis, Punctate kera... |
OMIM:617388 |
Ogden Syndrome |
|
Cutis laxa, Fine hair, Low-set ears, Macrotia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:276432 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma |
OMIM:304790 |
Temple-Baraitser Syndrome |
|
Hypoplastic thumbnail, Absent nail of hallux, Low anterior hairline, Aplastic/hypoplastic toenail... |
ORPHA:420561 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Microcornea, Microphthalmia, Macrotia, Generalized h... |
ORPHA:2510 |
Lambotte Syndrome |
|
Ocular anterior segment dysgenesis, Macrotia, Atresia of the external auditory canal |
OMIM:245552 |
Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Protruding ear, Fine hair, Thin eyebrow,... |
OMIM:190350 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Recurrent loss of toenails and fingernails, Crusting erythematous dermatitis, Erythema, Palmoplan... |
ORPHA:158673 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Low-set, posteriorly rotated ears, Highly arched eyebrow, Sparse eyebrow, Aplasia/Hypoplasia of t... |
ORPHA:1968 |
Aplasia Cutis Congenita |
|
Skin ulcer |
ORPHA:1114 |
Hypophosphatasia, Childhood |
|
Low alkaline phosphatase |
OMIM:241510 |
Tangier Disease |
|
Dry skin, Nail dystrophy, Nail dysplasia |
OMIM:205400 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Otitis media, Erythroderma |
ORPHA:169160 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Cataract, Corneal scarring, Conjunctivitis, Nail dystrophy, Nail dysplasia, Fragile skin |
OMIM:226600 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule |
ORPHA:79148 |
Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer |
ORPHA:1117 |
Specific Granule Deficiency 1 |
|
Low neutrophil alkaline phosphatase |
OMIM:245480 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, Leukocoria, Thickened helices, Microphthalmia, Macrotia, Aplasia/Hypoplasia of the nails |
ORPHA:2714 |
Trisomy 9P |
|
Hypoplastic toenails, Abnormal pupil morphology, Protruding ear, Fingernail dysplasia, Macrotia, ... |
ORPHA:236 |
Juvenile Dermatomyositis |
|
Myositis, Pericarditis, Skin rash, Alopecia, Pruritus, Erythema, Skin ulcer, Arthritis, Dry skin |
ORPHA:93672 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... |
ORPHA:158687 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Skin rash, Maculopapular exanthema, Colitis, Erythroderma, Ecchymosis, Infectious encephalitis, P... |
ORPHA:540 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Posteriorly rotated ears, Nail dystrophy, Highly arched eyebrow |
OMIM:300887 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Familial Expansile Osteolysis |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:174810 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hypohidrosis |
ORPHA:181 |
Dermatoosteolysis, Kirghizian Type |
|
Keratitis, Osteoarthritis, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dystrophi... |
ORPHA:1657 |
Borjeson-Forssman-Lehmann Syndrome |
|
Macrotia |
OMIM:301900 |
Noonan Syndrome 13 |
|
Highly arched eyebrow, Low posterior hairline, Recurrent otitis media, Dry skin, Generalized hirs... |
OMIM:619087 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Perianal erythema, Paronychia, Dry skin, Perioral erythema, Alopecia of scalp |
OMIM:201100 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis |
ORPHA:158681 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Psoriasiform lesion, Erythroderma |
ORPHA:169154 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Hyperhidrosis, Bone marrow hypo... |
ORPHA:391 |
Sandestig-Stefanova Syndrome |
|
Laterally extended eyebrow, Highly arched eyebrow, Developmental cataract, Low-set ears, Angulate... |
OMIM:618804 |
Flynn-Aird Syndrome |
|
Alopecia, Cataract, Skin ulcer |
ORPHA:2047 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Cholestasis |
OMIM:620010 |
Diencephalic Syndrome |
|
Macrotia |
ORPHA:1672 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Sialidosis Type 2 |
|
Splenomegaly, Ascites, Corneal opacity, Hepatomegaly |
ORPHA:87876 |
Fg Syndrome Type 1 |
|
Optic nerve hypoplasia, Facial wrinkling, Sensorineural hearing impairment, Cupped ear, Microtia,... |
ORPHA:93932 |
Geroderma Osteodysplasticum |
|
Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, ... |
OMIM:231070 |
Letterer-Siwe Disease |
|
Stomatitis, Pallor, Seborrheic dermatitis |
OMIM:246400 |
Pontocerebellar Hypoplasia, Type 3 |
|
Macrotia, Low-set ears, Hearing impairment |
OMIM:608027 |
Hydroxykynureninuria |
|
Stomatitis, Dry skin |
ORPHA:79155 |
Temtamy Syndrome |
|
Highly arched eyebrow, Ectopia lentis, Lens luxation, Lop ear, Low-set ears, Microphthalmia, Iris... |
OMIM:218340 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin |
ORPHA:486815 |
Mehmo Syndrome |
|
Macrotia |
OMIM:300148 |
Ddost-Cdg |
|
Dry skin |
ORPHA:300536 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Vulvovaginal Gingival Syndrome |
|
Ridged nail, Parakeratosis |
ORPHA:83453 |
Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal hair quantity, Aplasia of the semicircular canal, Sen... |
ORPHA:648 |
Xq27.3Q28 Duplication Syndrome |
|
Sparse body hair |
ORPHA:261483 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Decreased number of sweat glands, Dystrophic toenail, Onycholysis, Nail... |
ORPHA:69087 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Fine hair, Microtia, Long eyelashes, Macrotia, Hearing impairment |
OMIM:620250 |
Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Cataract, Abnormal fingernail morphology, Opacification of the corneal stroma |
ORPHA:3453 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Low... |
OMIM:618000 |
Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic stea... |
OMIM:612526 |
Congenital Short Bowel Syndrome |
|
Sparse hair |
ORPHA:2301 |
Bartsocas-Papas Syndrome |
|
Corneal opacity, Alopecia totalis, Hypoplastic toenails, Popliteal pterygium, Sparse or absent ey... |
ORPHA:1234 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract |
ORPHA:324416 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Low anterior hairline, Horizontal eyebrow, High anterior hairline, Dry skin, Thick eyebrow |
OMIM:618797 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Macrotia |
OMIM:608930 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis, Recurrent aphthous stomatitis, Chronic... |
OMIM:150550 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Buphthalmos, Microcornea, Shallow anterior... |
OMIM:221900 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macrotia, Bilateral sensorineural hearing impairment |
OMIM:300238 |
Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Prominent crus of helix, Macrotia, Abnormality of superior crus of antihelix |
OMIM:301013 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Hepatosplenomegaly, Generalized hypertrichosis, Viscerom... |
ORPHA:93399 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Elevated circulating alkaline phos... |
ORPHA:263501 |
Wilson Disease |
|
Hepatomegaly, Pruritus, Splenomegaly, Thrombocytopenia, Jaundice, Hepatitis, Kayser-Fleischer rin... |
ORPHA:905 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Shallow anterior chamber |
OMIM:267760 |
Diffuse Cutaneous Mastocytosis |
|
Pruritus, Scaling skin, Erythroderma |
ORPHA:79456 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Brittle hair, Slow-growing hair, Redundant skin, Abnormal eyel... |
ORPHA:1340 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Osteomyelitis, Acral ulceration |
OMIM:613115 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Cataract, Protruding ear |
ORPHA:627 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse eyelashes, Sparse eyebrow, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Sparse... |
OMIM:224900 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Abnormal pinna morphology, Highly arched eyebrow, Protruding ear, Long eyelashes, Low-set ears, M... |
OMIM:617452 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:122860 |
Harel-Yoon Syndrome |
|
Corneal opacity, Developmental cataract |
OMIM:617183 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma |
ORPHA:231736 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair, Cutis laxa |
OMIM:309400 |
Tularemia |
|
Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology, Cervical lymp... |
ORPHA:3392 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
Immunodeficiency 55 |
|
Dry skin, Recurrent skin infections, Eczema |
OMIM:617827 |
Central Precocious Puberty In Male |
|
Pituitary microadenoma, Acne, Abnormality of secondary sexual hair, Abnormality of the testis size |
ORPHA:649929 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Posteriorly rotated ears, Optic nerve hypoplasia, Abnormal hair morphology, Bilateral microphthal... |
OMIM:607597 |
Christianson Syndrome |
|
Macrotia, Thick eyebrow |
ORPHA:85278 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Myeloproliferative disorder |
OMIM:607685 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Coarse hair, Sparse hair, Chronic otitis media, Dry skin, Hearing impairment |
ORPHA:2750 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Progeroid facial appearance, Developmental cataract, Conjunctivitis, Macrotia, Hear... |
ORPHA:90322 |
Vernal Keratoconjunctivitis |
|
Pruritus, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate keratitis, Cornea... |
ORPHA:70476 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Sparse eyebrow, Nasolacrimal duct obstruction, Low posterior hairline, Hy... |
OMIM:604173 |
Developmental And Epileptic Encephalopathy 64 |
|
Highly arched eyebrow, Sparse eyebrow, Low anterior hairline, Long eyelashes, Macrotia, Thick eye... |
OMIM:618004 |
Psoriasis 14, Pustular |
|
Parakeratosis, Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Erythem... |
OMIM:614204 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... |
ORPHA:294023 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Macrotia, Abnormally large globe |
OMIM:618504 |
Recon Progeroid Syndrome |
|
Attached earlobe, Progeroid facial appearance, Hyperconvex thumb nails, Livedo reticularis, Absen... |
OMIM:620370 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Absent earlobe, Phthisis bulbi, Developmental cataract, Microcornea, Sten... |
OMIM:612109 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Highly arched eyebrow, Synophrys, Low anterior hairline, Protruding ear, Long eyelashes, Low-set ... |
ORPHA:329224 |
Frontonasal Dysplasia 1 |
|
Cataract, Widow's peak, Low-set ears, Conductive hearing impairment, Microphthalmia |
OMIM:136760 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thromboc... |
OMIM:603554 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Macrotia, Cataract, Hearing impairment |
OMIM:619877 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Alopecia, Low-set ears, Fine hair |
ORPHA:228390 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Liver abscess, Recurrent skin infections, Abnormal fingern... |
ORPHA:678 |
Stuve-Wiedemann Syndrome 1 |
|
Sparse hair, Premature skin wrinkling, Opacification of the corneal stroma, Hyperhidrosis |
OMIM:601559 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Abnormal pinna morphology, Highly arched eyebrow, Hearing impairment |
OMIM:614583 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... |
OMIM:308240 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
Lissencephaly 6 With Microcephaly |
|
Synophrys, Macrotia |
OMIM:616212 |
Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Corneal opacity, Optic disc coloboma, Chorioretinal colo... |
OMIM:120200 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Protruding ear, Recurrent otitis media, Frontal hirsutism, Macrotia |
ORPHA:3304 |
Achalasia-Microcephaly Syndrome |
|
Macrotia |
ORPHA:929 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Low-set ears, Conductive hearing ... |
OMIM:617412 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Developmental cataract |
OMIM:215100 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:614602 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Ectodermal dysplasia, Hypoplastic nipples, Small nail |
OMIM:273400 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Prematurely aged appearance, Progeroid facial appearance, Abnormal hair morphology, Nai... |
ORPHA:90154 |
Vascular Malformation, Primary Intraosseous |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:606893 |
Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Macrotia, Hyperconvex thumb nails, Fine hair |
ORPHA:3079 |
9P13 Microdeletion Syndrome |
|
Hyperconvex nail, Highly arched eyebrow, Hypoplastic toenails, Recurrent otitis media, Dry skin, ... |
ORPHA:324313 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Skin vesicle, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia, Elevated circulating alkaline phosphatase concentration |
OMIM:600785 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Corneal opacity, Lymphadenopathy |
ORPHA:79292 |
Werner Syndrome |
|
Cataract, Prematurely aged appearance, Progeroid facial appearance, Subcutaneous calcification, A... |
OMIM:277700 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Abnormal hair morphology, Macroorchidism, Acne |
ORPHA:3000 |
Congenital Disorder Of Glycosylation, Type Id |
|
Nail dysplasia, Macrotia, Iris coloboma, Small nail |
OMIM:601110 |
De Barsy Syndrome |
|
Cataract, Corneal opacity, Progeroid facial appearance, Prominent veins on trunk, Cutis laxa, Lar... |
ORPHA:2962 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Low posterior hairline |
ORPHA:2183 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe... |
OMIM:137940 |
Agel Amyloidosis |
|
Pruritus, Cutis laxa, Keratoconjunctivitis sicca, Nail dystrophy, Sparse hair, Dry skin |
ORPHA:85448 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... |
OMIM:615631 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Large fleshy ears, Astigmatism |
OMIM:619556 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cataract |
OMIM:611040 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal ch... |
ORPHA:79301 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent... |
ORPHA:277 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Highly arched eyebrow, Macrotia, Low-set ears |
OMIM:618142 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Large fleshy ears, Frontotemporal hypertrichosis, Posteriorly rotated ears, Low-set ears |
OMIM:263210 |
Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Sensorineural hearing impairment, Low-set ears, Peters anomaly, Microphthalmia |
OMIM:618652 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Alopecia |
OMIM:612079 |
Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma, Hearing impairment |
ORPHA:195 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Dry skin |
ORPHA:95715 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis, Opacification of the corneal stroma |
ORPHA:79280 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Macrotia, Low-set ears |
OMIM:615419 |
Joubert Syndrome 37 |
|
Sparse hair, Microphthalmia, Posteriorly rotated ears, Low-set ears |
OMIM:619185 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin, Corneal opacity, Optic nerve hypoplasia, Posteriorly rotated ears, Large ear... |
OMIM:301056 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Sensorineural hearing impairment, Progeroid facial appearance |
ORPHA:50811 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Cataract, Underfolded helix, Sparse eyelashes, Sparse scalp hair, Absen... |
OMIM:268400 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macrotia |
OMIM:300886 |
Generalized Pustular Psoriasis |
|
Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma, Abnormality of the... |
ORPHA:247353 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Progeroid facial appearance, Sparse eyebrow, Cutis laxa, Thi... |
ORPHA:75496 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Acantholysis, Pruritus,... |
ORPHA:293173 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Skin ulcer, Purpura |
ORPHA:743 |
Opitz-Kaveggia Syndrome |
|
Facial wrinkling, Sensorineural hearing impairment, Fine hair, Frontal upsweep of hair, Sparse ha... |
OMIM:305450 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia |
OMIM:615010 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela... |
ORPHA:544488 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Eczema, Dry skin, Abnormality of the nail |
ORPHA:428 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Hypotonia-Cystinuria Syndrome |
|
Macrotia, Posteriorly rotated ears, Long eyelashes |
OMIM:606407 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin |
OMIM:613990 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... |
ORPHA:90186 |
Scalp-Ear-Nipple Syndrome |
|
Underdeveloped antitragus, Anteverted ears, Protruding ear, Anisocoria, Sparse hair, Small earlob... |
OMIM:181270 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Corneal opacity, Hirsutism, Hepatomegaly |
OMIM:607015 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Redundant skin, Seborrheic dermatitis, Erythema, Arthritis, Eczematoid dermatitis |
OMIM:259100 |
X-Linked Intellectual Disability, Cilliers Type |
|
Macrotia, Small nail |
ORPHA:163971 |
Craniofrontonasal Dysplasia |
|
Abnormality of hair texture, Sensorineural hearing impairment, Widow's peak, Low posterior hairli... |
ORPHA:1520 |
Werner Syndrome |
|
Sparse scalp hair, Cataract, Prematurely aged appearance, Telangiectasia of the skin, Abnormal ha... |
ORPHA:902 |
Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Trichoepithelioma, Cylindroma, Skin ulcer |
ORPHA:79493 |
Temtamy Syndrome |
|
Microphthalmia, Iris coloboma, Low-set ears |
ORPHA:1777 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Corneal opacity, Abnormal fingernail morphology, External ear malformation, Iris colobo... |
ORPHA:1647 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Acne, Hirsutism |
OMIM:612847 |
Acute Radiation Syndrome |
|
Hyperkeratosis, Cataract |
ORPHA:454831 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Macrotia |
ORPHA:93950 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Cataract, Decreased adipose tissue around... |
OMIM:606721 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Iris coloboma |
ORPHA:88630 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:616819 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Sparse eyebrow, Small nail, Low-set ears, Sparse hair, High anterior hairline, ... |
OMIM:250410 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Coloboma, Alopecia, Corneal opacity, Ichthyosis |
OMIM:163200 |
Melnick-Needles Syndrome |
|
Recurrent otitis media, Coarse hair, Macrotia, Frontal hirsutism |
OMIM:309350 |
Neuhauser Syndrome |
|
Iridodonesis, Cupped ear, Low anterior hairline, Hypoplasia of the iris, Large fleshy ears, Megal... |
OMIM:249310 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Chanarin-Dorfman Syndrome |
|
Alopecia, Subcapsular cataract |
OMIM:275630 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Acanthosis nigricans, Hyperkeratosis, Parakeratosis, Ichthyosis |
OMIM:618527 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Petechiae, Splenomegaly, L... |
OMIM:612840 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Macrotia, Low-set ears |
OMIM:615433 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:619073 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Small nail, ... |
OMIM:610644 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro... |
ORPHA:91495 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Low-set, posteriorly rotated ears, External ear malformation, Microcornea, Microphthalmia, Genera... |
ORPHA:2505 |
Coffin-Lowry Syndrome |
|
Cutis marmorata, Highly arched eyebrow, Sensorineural hearing impairment, Protruding ear, Hyperco... |
OMIM:303600 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Alopecia, P... |
ORPHA:37042 |
Tangier Disease |
|
Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Thrombocytopen... |
ORPHA:31150 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Large earlobe, Cutis marmorata |
OMIM:602501 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615424 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Overfolded helix, Low-set ears |
OMIM:619092 |
Calciphylaxis |
|
Abnormality of skin physiology, Skin ulcer |
ORPHA:280062 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616025 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Recurrent skin infections, Corneal opacity, Erythema, Anemia, Palmoplantar keratoderma,... |
ORPHA:79396 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thick eyebrow, Synophrys, Low anterior hairline, Frontal upsweep of hair, Overfolded helix, Macro... |
OMIM:617061 |
Trisomy 13 |
|
Anophthalmia, Cataract, Abnormal eyelash morphology, Sensorineural hearing impairment, Aplasia/Hy... |
ORPHA:3378 |
Walker-Warburg Syndrome |
|
Anophthalmia, Corneal opacity, Cataract, Posteriorly rotated ears, Protruding ear, Microcornea, L... |
ORPHA:899 |
Noonan Syndrome 8 |
|
Hyperkeratosis, Curly hair |
OMIM:615355 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ... |
OMIM:258360 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... |
OMIM:613812 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Macrotia |
ORPHA:1154 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis |
OMIM:619868 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Macrotia, Low-set ears |
ORPHA:314575 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Hepatomegaly, Pancytopenia, Skin rash, Aplastic anemia, Maculopapular exanthema... |
ORPHA:398124 |
Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Erythema, Eczema |
OMIM:177000 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Corneal opacity, Redundant skin, Prematurely aged appearance, Protruding ear... |
ORPHA:90348 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, Hyperkeratosis, High anterior hairline, Hypohidrosis |
OMIM:615510 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... |
OMIM:600803 |
Cranioectodermal Dysplasia 3 |
|
Short nail, Broad nail, Cutis laxa, Fine hair, Sparse hair, Dry skin |
OMIM:614099 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Cataract, Sparse eyelashes, Fine hair, Microcornea, Large earlobe, Low-set ears, Persistent pupil... |
OMIM:257850 |
Leukemia, Chronic Myeloid |
|
Reduced leukocyte alkaline phosphatase |
OMIM:608232 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Low-set ears, Small nail, Macrotia |
ORPHA:166035 |
Pachydermoperiostosis |
|
Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnorm... |
ORPHA:2796 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Pruritus |
ORPHA:411777 |
Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis |
OMIM:609536 |
Familial Keratoacanthoma |
|
Hyperkeratosis |
ORPHA:493 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Eczema, Erythroderma |
OMIM:619510 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Cupped ear, Protruding ear, Nail dystrophy |
ORPHA:93947 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Jaundice, Ele... |
OMIM:619662 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Synophrys, Macrotia |
ORPHA:391307 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Thickened helices, Macrotia, Abnormal pinna morphology |
OMIM:614104 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Highly arched eyebrow, Aplasia/Hypoplasia of the external ear, Long eyelashes, Low-set ears, Macr... |
ORPHA:505237 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Subcutaneous lipoma |
OMIM:613001 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Palmoplantar keratode... |
OMIM:106260 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis |
ORPHA:86843 |
Trichothiodystrophy |
|
Ridged nail, Congenital exfoliative erythroderma, Sparse scalp hair, Brittle hair, Split nail, Ec... |
ORPHA:33364 |
Bullous Pemphigoid |
|
Erythema, Psoriasiform dermatitis, Eczema |
ORPHA:703 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79303 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Absent inner eyelashes, Limbal dermoid, Microphthalmia, ... |
ORPHA:1791 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:212550 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, Absence of l... |
OMIM:619924 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Abnormality of the subungual region, Developmental cataract, Microphthalmia, Bruising s... |
ORPHA:335 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Alopecia, Hepatomegaly, Skin rash, Myositis, Pericarditis, Gastritis, Splenomeg... |
ORPHA:809 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Macrotia, Low anterior hairline |
OMIM:218000 |
Occipital Horn Syndrome |
|
Coarse hair, Bruising susceptibility, Pili torti, Redundant skin |
OMIM:304150 |
Donohue Syndrome |
|
Nail dysplasia, Macrotia, Low-set ears, Hypertrichosis |
OMIM:246200 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, E... |
ORPHA:727 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
Cutaneous Small Vessel Vasculitis |
|
Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Purpura |
ORPHA:889 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Highly arched eyebrow, Sparse pubic hair, Cupped ear, Microcornea, Microphthalmia |
OMIM:110100 |
Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Hypohidrosis, Hyperkeratosis, Iritis, Corneal perfor... |
ORPHA:548 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Bronchiectasis, Facial erythema, Arthritis, Vasculitis in the ski... |
OMIM:620321 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morpho... |
ORPHA:75564 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Nail dystrophy |
OMIM:616353 |
Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis |
OMIM:119580 |
Noonan Syndrome 14 |
|
Curly hair, Sparse eyebrow, Low posterior hairline, Sparse hair, Dry skin |
OMIM:619745 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Atresia of the external auditory canal, Hearing impairment |
OMIM:619981 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Protruding ear, Low-set ears, Overfolded helix, Macrotia, Broad eyebrow, Hearing impairment |
ORPHA:481152 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Cataract, Posteriorly rot... |
OMIM:264090 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
Reynolds Syndrome |
|
Skin rash, Pruritus, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis |
ORPHA:779 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Kabuki Syndrome 2 |
|
Highly arched eyebrow, Cupped ear, Protruding ear, Long eyelashes, Low-set ears, Recurrent otitis... |
OMIM:300867 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Cataract, Low-set ears |
ORPHA:93267 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Cataract, Sparse eyelashes, Sparse eyebrow, Protruding ear, Fine hair, Low-set ears... |
OMIM:617988 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Filippi Syndrome |
|
Sparse hair, Frontal hirsutism, Hypertrichosis |
OMIM:272440 |
Dowling-Degos Disease |
|
Hyperkeratosis, Hyperkeratotic papule, Abnormal fingernail morphology |
ORPHA:79145 |
Paget Disease Of Bone 3 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:167250 |
Noonan Syndrome 6 |
|
Curly hair, Long eyebrows, Sensorineural hearing impairment, Low posterior hairline, Low-set ears... |
OMIM:613224 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Osteomyelitis, Skin ulcer |
OMIM:613640 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Thickened skin, Palmoplantar hyperkeratosis, Corneal stromal edema, Hyperkeratos... |
OMIM:601812 |
Roifman Syndrome |
|
Hepatomegaly, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Prominent eyelashes, Lymph... |
OMIM:616651 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Redundant skin, Lack of skin elasticity, Protruding ear, Excessive w... |
OMIM:612940 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hypopigmentation ... |
OMIM:214500 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Posteriorly rotated ears, Congenital sensorineural hearing impairment, Microcornea, Iri... |
OMIM:617306 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash, Neutrophilia, Pruritus, Splen... |
ORPHA:829 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Low-set ears, Fine hair |
ORPHA:251019 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Posterior subcapsular cataract, Cataract, Sparse hair |
OMIM:616200 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Dry skin |
ORPHA:226313 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Sensorineural hearing impairment, Telangiectasia, Keratoconjunctivitis sicca... |
OMIM:278730 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Cataract, Thickened skin, Ocular albinism, Hyperkeratosis, Astigmatism,... |
ORPHA:79430 |
Developmental And Epileptic Encephalopathy 110 |
|
Macrotia, Low-set ears |
OMIM:620149 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Alopecia, Cataract, Prematurely aged appearance, Lack of facial subcuta... |
ORPHA:2959 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Cataract, Eczema, Lack of skin elasticity |
ORPHA:79254 |
Hermansky-Pudlak Syndrome 10 |
|
Macrotia, Ocular albinism, Low-set ears, Albinism |
OMIM:617050 |
Biotinidase Deficiency |
|
Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis |
OMIM:253260 |
Dermatitis Herpetiformis |
|
Pruritus, Skin vesicle, Erythema, Eczema |
ORPHA:1656 |
Limb-Mammary Syndrome |
|
Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Absent nipple, Sparse eyebr... |
ORPHA:69085 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade... |
OMIM:240500 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Elevated circulating alkaline phosphatase concentration |
OMIM:135100 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Supernumerary nipple, Aplastic/hypoplastic toenail, Fine hair, Dry skin, Aplasia/Hypoplasia of th... |
ORPHA:1812 |
Say Syndrome |
|
Macrotia |
OMIM:181180 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Abnormal hair pattern |
ORPHA:2717 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Macrotia, Posteriorly rotated ears, Low-set ears |
OMIM:618665 |
Hutchinson-Gilford Progeria Syndrome |
|
High-frequency sensorineural hearing impairment, Absent eyebrow, Prominent superficial blood vess... |
ORPHA:740 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Microphthalmia |
OMIM:615877 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Acne, Seborrheic dermatitis |
OMIM:614441 |
Polyarteritis Nodosa |
|
Pericarditis, Erythema, Skin ulcer |
ORPHA:767 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616809 |
Lymphatic Malformation 12 |
|
Hyperkeratosis |
OMIM:620014 |
Pemphigus Erythematosus |
|
Acantholysis |
ORPHA:79480 |
Atkin-Flaitz Syndrome |
|
Macrotia |
ORPHA:1193 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... |
OMIM:300400 |
Systemic Lupus Erythematosus 17 |
|
Alopecia |
OMIM:301080 |
Ramon Syndrome |
|
Hyperkeratosis, Axenfeld anomaly, Hypertrichosis |
OMIM:266270 |
Immunodeficiency 25 |
|
Recurrent pneumonia, Erythroderma |
OMIM:610163 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Abnormal antihelix morphology, Large earlobe, Low-set ears |
ORPHA:1438 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Dry skin |
OMIM:614576 |
Roifman Syndrome |
|
Eczema, Hyperconvex nail, Eosinophilia, Recurrent pneumonia, Prominent eyelashes, Lymphadenopathy... |
ORPHA:353298 |
Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis |
OMIM:600705 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Skin ulcer,... |
OMIM:186580 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Posteriorly rotated ears, Prominent crus of helix, Synophrys, Widow's peak, Low-set ears, Thin ey... |
OMIM:617804 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair, Prominent corneal nerve fibers |
OMIM:616559 |
Refsum Disease |
|
Dry skin, Nail dysplasia |
ORPHA:773 |
Chime Syndrome |
|
Corneal opacity, Fine hair, Hyperkeratosis, Retinal coloboma, Ichthyosis, Sparse hair |
ORPHA:3474 |
Baraitser-Winter Syndrome 1 |
|
Highly arched eyebrow, Sensorineural hearing impairment, Low posterior hairline, Low-set ears, Mi... |
OMIM:243310 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey... |
ORPHA:2273 |
Caspase 8 Deficiency |
|
Pneumonia, Eczema, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:607271 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Thick eyebrow, Posteriorly rotated ears, Sensorineural hearing impairment, Long eyelashes, Low-se... |
OMIM:212066 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity |
ORPHA:496790 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Hyperkeratosis, Loose anagen hair, Astigmatism, Long eyelashes, Ic... |
OMIM:607721 |
Koolen-De Vries Syndrome |
|
Cataract, Fair hair, Abnormality of hair texture, Anteverted ears, Dry skin, Overfolded helix, Ma... |
OMIM:610443 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Chronic noninfectious lymphadenopathy, Eosi... |
OMIM:603909 |
Arthrogryposis Multiplex Congenita 5 |
|
Prominent antihelix, Premature skin wrinkling, Macrotia |
OMIM:618947 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Viral hepatitis, Poor wound healing, Hepatocellular carcinom... |
ORPHA:101330 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Macrotia |
OMIM:300558 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Enlarged mesenteric lymph... |
OMIM:209950 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... |
OMIM:619164 |
Lowry-Maclean Syndrome |
|
Corneal opacity, Developmental glaucoma, Low-set ears, Generalized hypertrichosis, Megalocornea |
ORPHA:2409 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Splenomegaly, Jaundice, Low anterior hairline, Excessive wrinkled skin, Hypertrichosis |
OMIM:608779 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Hypohidrosis, P... |
ORPHA:158668 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Hearing impairment, Low-set ears, Microphthalmia, Iris h... |
ORPHA:284160 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Cataract |
OMIM:251270 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Synophrys |
ORPHA:261272 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... |
OMIM:607594 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Elevated circulating aspartate aminotransferase concentration, Portal hype... |
OMIM:278000 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Microtia, Nail d... |
ORPHA:163654 |
Familial Benign Copper Deficiency |
|
Early balding, Acne, Anemia |
ORPHA:1551 |
Pontocerebellar Hypoplasia, Type 11 |
|
Macrotia |
OMIM:617695 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Cirrhosis |
ORPHA:75234 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair, Microphthalmia, Cataract |
OMIM:614105 |
Rere-Related Neurodevelopmental Syndrome |
|
Low-set, posteriorly rotated ears, Astigmatism, Peters anomaly, Microphthalmia, Iris coloboma, Br... |
ORPHA:494344 |
Gapo Syndrome |
|
Keratoconus, Alopecia, Sparse eyelashes, Prematurely aged appearance, Sparse eyebrow, Early baldi... |
ORPHA:2067 |
Hurler Syndrome |
|
Hepatomegaly, Corneal opacity, Splenomegaly, Enlarged tonsils, Hepatosplenomegaly, Opacification ... |
OMIM:607014 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Hypohidrosis, Sparse hair |
ORPHA:2316 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Recurrent loss of toenails and fingernails, Nail dystrophy, Skin ulcer |
OMIM:245660 |
Congenital Toxoplasmosis |
|
Microphthalmia, Jaundice, Hearing impairment |
ORPHA:858 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Macrotia |
OMIM:619435 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Atrophic gastritis, Eczema, P... |
ORPHA:436159 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... |
ORPHA:911 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Skin ulcer |
ORPHA:86884 |
Mandibuloacral Dysplasia |
|
Alopecia, Increased subcutaneous truncal adipose tissue, Thin skin, Sparse hair, Hypoplastic fing... |
ORPHA:2457 |
Fanconi Anemia, Complementation Group S |
|
Sparse hair, Microphthalmia, Long eyelashes, Low anterior hairline |
OMIM:617883 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Skin rash, Cholestasis, Hepatomegaly |
OMIM:105200 |
Limited Cutaneous Systemic Sclerosis |
|
Skin ulcer |
ORPHA:220402 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cataract, Sensorineural hearing impairment, Abnormality of the ear, Microphthalmia, Hirsutism |
OMIM:214150 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia |
ORPHA:3143 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Intermittent j... |
OMIM:601847 |
Takayasu Arteritis |
|
Increased inflammatory response, Inflammatory abnormality of the eye, Skin ulcer, Arthritis |
ORPHA:3287 |
Xq28 (MECP2) duplication |
|
Macrotia |
DECIPHER:45 |
Spinocerebellar Ataxia 34 |
|
Erythroderma |
OMIM:133190 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Elevated alkaline phosphatase of bone origin |
OMIM:615923 |
Autosomal Erythropoietic Protoporphyria |
|
Eczema, Microcytic anemia, Pruritus, Erythema, Cirrhosis, Cholelithiasis, Cutaneous photosensitivity |
ORPHA:79278 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Erythema, Fine hair, Onycholysis, Nail dystr... |
OMIM:614748 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Sparse eyebrow, Sensorineural hearing impairment, Synophrys, Low-set ears, Sparse hair |
OMIM:620075 |
Ogden Syndrome |
|
Redundant neck skin, Redundant skin, Cardiomegaly, Microvesicular hepatic steatosis, Iron deficie... |
OMIM:300855 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Sparse eyebrow |
OMIM:619989 |
Gm1 Gangliosidosis |
|
Corneal opacity, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Infectious encephalitis,... |
ORPHA:354 |
Kury-Isidor Syndrome |
|
Alopecia, Astigmatism, Hypertrichosis |
OMIM:619762 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Prominent scalp veins, Cataract, Optic di... |
ORPHA:3455 |
Pseudoxanthoma Elasticum |
|
Acne, Skin rash, Telangiectasia of the skin, Pruritus, Lack of skin elasticity, Excessive wrinkle... |
ORPHA:758 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Decreased adipose tissue around neck, Brittle hair, Prominent superficial veins, Proger... |
OMIM:608612 |
Milroy Disease |
|
Hyperkeratosis, Toenail dysplasia |
ORPHA:79452 |
Warburg Micro Syndrome 4 |
|
Low anterior hairline, Developmental cataract, Microcornea, Microphthalmia, Hirsutism |
OMIM:615663 |
Seckel Syndrome |
|
Abnormal earlobe morphology, Sparse scalp hair, Prematurely aged appearance, Absent earlobe |
ORPHA:808 |
Sotos Syndrome |
|
Posteriorly rotated ears, Sparse eyebrow, Prolonged neonatal jaundice, Low-set ears, Otitis media... |
OMIM:117550 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia, Low-set ears |
OMIM:613885 |
Otodental Syndrome |
|
High-frequency sensorineural hearing impairment, Cataract, Lens coloboma, Microcornea, Otitis med... |
ORPHA:2791 |
X-Linked Intellectual Disability, Shashi Type |
|
Macrotia |
ORPHA:85286 |
Leishmaniasis |
|
Rhinitis, Pallor, Skin ulcer |
ORPHA:507 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Hepatomegaly, Anhidrosis, Anhidrotic ectodermal dysplasia, Splenomegaly, Hypoh... |
OMIM:612132 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Recurrent skin infections, Atopic dermatitis, Decreased proportion of class-switched memory B cel... |
OMIM:618944 |
Anauxetic Dysplasia 2 |
|
Sparse hair, Nail dysplasia, Small nail |
OMIM:617396 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Palmoplantar cutis laxa, Macrotia, Hirsutism |
ORPHA:2976 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
Fragile X Syndrome |
|
Macrotia |
OMIM:300624 |
Focal Dermal Hypoplasia |
|
Alopecia, Corneal opacity, Telangiectasia of the skin, Ectopia lentis, Erythema, Hypoplasia of th... |
ORPHA:2092 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Sensorineural hearing impairment, Ocular alb... |
ORPHA:2719 |
Curry-Jones Syndrome |
|
Microphthalmia, Iris coloboma, Generalized hirsutism |
ORPHA:1553 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Dry hair, Abnormal pinna morphology, Prematurely aged appear... |
OMIM:133540 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Petechiae, Purpura |
ORPHA:91138 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Eczema, Keratoconjunctivitis, Thrombocytopenia, Perioral eczema |
ORPHA:79242 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse hair |
OMIM:302960 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Alopecia, Abno... |
ORPHA:50918 |
Gapo Syndrome |
|
Keratoconus, Prominent scalp veins, Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, S... |
OMIM:230740 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... |
OMIM:614700 |
Acquired Purpura Fulminans |
|
Pyoderma gangrenosum, Skin rash, Macular purpura |
ORPHA:49566 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, White hair, Hyperhidrosis, Premature graying of hair, Periodontitis, ... |
ORPHA:1775 |
Noonan Syndrome 4 |
|
Curly hair, Posteriorly rotated ears, Sparse eyebrow, Blue irides, Low-set ears, Thickened helice... |
OMIM:610733 |
Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cataract, Protruding ear, Astigmatism, Horizontal eyebrow, Low-set ears, Microphthalmia |
OMIM:618571 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
High anterior hairline, Long eyelashes, Fine hair |
ORPHA:231137 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Eosinophilia, Recurrent pneumonia, Erythema, Chronic mucocutaneous candidiasis, Eczema... |
OMIM:147060 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Low-set ears, Aniridia, Microphthalmia, Iris coloboma, Hearing impairment |
ORPHA:251038 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Uplifted earlobe, Microcornea, Low-set ears, Sparse hair, Microphthalmia |
OMIM:616449 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Dry skin, Abnormality of hair texture |
ORPHA:96169 |
Ollier Disease |
|
Skin ulcer |
ORPHA:296 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Atrophic gastritis, Eczema, A... |
OMIM:616100 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Opacification of the corneal stroma |
OMIM:601853 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Macrotia |
OMIM:620292 |
Bone Marrow Failure Syndrome 3 |
|
Hyperkeratosis, Astigmatism, Nail dystrophy, Small nail, Sparse hair, Aplasia/Hypoplasia of the e... |
OMIM:617052 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Synophrys, Protruding ear, Sparse hair, Low-set ears, Thickened helices, Thickened ears, Macrotia... |
OMIM:300966 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Ring Chromosome 22 Syndrome |
|
Macrotia, Toenail dysplasia, Thick eyebrow |
ORPHA:1446 |
Cockayne Syndrome Type 3 |
|
Dry hair, Cataract, Macrotia, Microcornea, Premature graying of hair, Keratoconjunctivitis sicca,... |
ORPHA:90324 |
Noonan Syndrome 10 |
|
Sparse eyebrow, Hyperkeratosis, Curly hair, Prominent corneal nerve fibers |
OMIM:616564 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Eczema, Perianal abscess, Splenomegaly, Lymphadenitis, Recu... |
OMIM:618935 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Microtia |
ORPHA:2547 |
Pontocerebellar Hypoplasia, Type 7 |
|
Synophrys, Macrotia, Hirsutism, Low-set ears |
OMIM:614969 |
Revesz Syndrome |
|
Leukocoria, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Megalocornea, Ridged fingernail |
OMIM:268130 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Prominent antihelix, Macrotia |
OMIM:615802 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Skin ulcer, Leukonychia, Pan... |
ORPHA:2526 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Thick hair, Onychauxis, Low anterior hairline, Dry skin, Pre... |
ORPHA:769 |
Occipital Horn Syndrome |
|
Coarse hair, Bruising susceptibility, Thick hair, Jaundice |
ORPHA:198 |
Geroderma Osteodysplastica |
|
Microcornea, Redundant skin, Prematurely aged appearance, Thin skin |
ORPHA:2078 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Excessive wrinkled skin, Lymphangioma, Ovarian neoplasm |
ORPHA:137608 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Arthritis, Patchy alopecia, Iritis |
OMIM:109650 |
Intellectual Disability-Strabismus Syndrome |
|
Highly arched eyebrow, Synophrys, Low-set ears, Recurrent otitis media, Macrotia, Hearing impairment |
ORPHA:363528 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Recurrent s... |
OMIM:613101 |
Ververi-Brady Syndrome |
|
Macrotia, Cupped ear, Low-set ears |
OMIM:617982 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cataract |
OMIM:601794 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatic failure, Elevated alkaline phosphatase of bone origin, Pro... |
OMIM:616828 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Corneal opacity, Abnormality of the tonsils, Splenomegaly, Low anterior hairline, Chro... |
ORPHA:579 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Hypoplasia of the iris, Low-set ears, Opacification of the corneal stroma, Small nail, ... |
OMIM:251300 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macrotia, Low-set ears |
OMIM:616789 |
X-Linked Intellectual Disability, Seemanova Type |
|
Macrotia, Developmental cataract |
ORPHA:85323 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Fasciitis, Maculopapular exanthema, Myositis, Pneumonia, Ja... |
ORPHA:39812 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Anophthalmia, Cataract, Progeroid facial appearance, Cutaneo... |
ORPHA:90321 |
Lissencephaly 8 |
|
Microphthalmia, Cataract |
OMIM:617255 |
Hartsfield Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia |
ORPHA:2117 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Splenomega... |
OMIM:619849 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Down Syndrome |
|
Cataract, Prematurely aged appearance, Sparse hair, Round ear, Conductive hearing impairment |
ORPHA:870 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Hepa... |
OMIM:619858 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Fusariosis |
|
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per... |
ORPHA:228119 |
Aicardi-Goutieres Syndrome 9 |
|
Acute pancreatitis, Dry skin, Chilblains, Pericarditis |
OMIM:619487 |
Ssr4-Cdg |
|
Macrotia |
ORPHA:370927 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Hyperhidrosis, Infectiou... |
ORPHA:83317 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Nail dystrophy, Hypoplastic nipples, Small nail, Recurrent otitis media, Dry skin |
ORPHA:261323 |
Chronic Granulomatous Disease |
|
Sinusitis, Eczema, Skin ulcer, Otitis media, Inflammatory abnormality of the eye |
ORPHA:379 |
Laron Syndrome |
|
Osteoarthritis, Prematurely aged appearance, Hypohidrosis |
ORPHA:633 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Telangiectasia, Cirrhosis, Hepatocellular car... |
OMIM:235200 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pruritus, Pustule, Ulcerative ... |
ORPHA:555905 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Posteriorly rotated ears, Microcornea, Hypoplastic nipples, Low-set ears, Microphthalmia, Overfol... |
OMIM:156610 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract |
ORPHA:363741 |
Distal Monosomy 7Q36 |
|
Macrotia |
ORPHA:1636 |
Oculofaciocardiodental Syndrome |
|
Cataract, Highly arched eyebrow, Ectopia lentis, Sensorineural hearing impairment, Microcornea, M... |
ORPHA:2712 |
Sheehan Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Breast hypoplasia, Pallor, Dry skin, Hashimoto thyroiditis |
ORPHA:91355 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Subcutaneous hemorrhage, Pruritus, Arthritis, Conjunctivitis,... |
ORPHA:448237 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Alopecia, Absent eyebrow, Sparse scalp hair, K... |
OMIM:308205 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile ... |
ORPHA:85414 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Cataract, Corneal opacity, Pneumonia, Hepatosplenomegaly |
ORPHA:309288 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Urticaria, Splenomegaly, Pancytopenia, Anhidrosis |
OMIM:614979 |
Kapur-Toriello Syndrome |
|
Posteriorly rotated ears, Atresia of the external auditory canal, Low-set ears, Microphthalmia, I... |
ORPHA:2328 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity, Synophrys, Small nail, Thin eyebrow, Microphthalmia, Small earlobe, Hearing impa... |
ORPHA:364577 |
Blau Syndrome |
|
Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ... |
ORPHA:90340 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Dry skin, Skin rash |
ORPHA:220295 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Developmental cataract |
OMIM:613155 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Low... |
ORPHA:163956 |
Alg11-Cdg |
|
Dry skin |
ORPHA:280071 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Oligoarthri... |
OMIM:142680 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Pyoderma g... |
ORPHA:3243 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnormality of the parathy... |
ORPHA:2969 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Acne, Frontal balding, Synophrys, Facial hirsutism, High anterior hairline, Abnorm... |
ORPHA:247768 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Corneal opacity, External ear malformation, Astigmatism, Aplas... |
ORPHA:2323 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Telangiectasia, Frontal upsweep of ha... |
OMIM:612582 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, A... |
OMIM:607115 |
Scheie Syndrome |
|
Splenomegaly, Rhinitis, Corneal opacity, Hepatomegaly |
ORPHA:93474 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Sparse hair, Dry skin, Eczema, Thin nail |
OMIM:617799 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Sclerocornea, Microphthalmia, Iris coloboma, Hearing impairment |
ORPHA:77298 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Redundant skin, External ear malformation, Bruising susceptibi... |
ORPHA:2953 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Juvenile cataract, Macrotia |
OMIM:300055 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Frontal upsweep of hair, Scaling skin, ... |
OMIM:618419 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Macrotia, Posteriorly rotated ears, Hypoplastic fifth toenail |
OMIM:618106 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Posteriorly rotated ears, Highly arched eyebrow, Low posterior hairline, Fine hair, Low-set ears,... |
OMIM:613563 |
3Mc Syndrome 3 |
|
Abnormal pinna morphology, Corneal opacity, Highly arched eyebrow, Auricular pit, Hearing impairment |
OMIM:248340 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Macrotia, Patchy alopecia, Thick eyebrow, Protruding ear |
OMIM:300534 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Giant Axonal Neuropathy |
|
Woolly hair, Pili canaliculi |
ORPHA:643 |
3Mc Syndrome |
|
Abnormal pinna morphology, Highly arched eyebrow, Supernumerary nipple, Large fleshy ears, Low-se... |
ORPHA:293843 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Urticaria, Arthritis, Conjunctiviti... |
ORPHA:575 |
Emanuel Syndrome |
|
Redundant neck skin, Astigmatism, Recurrent otitis media, Low-set ears, Severe hearing impairment... |
ORPHA:96170 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Splenom... |
ORPHA:824 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... |
OMIM:612714 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Skin rash, Splenomegaly, Enterocolitis, Anemia, Urticaria, Reduced natural killer c... |
OMIM:616050 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Adams-Oliver Syndrome |
|
Alopecia, Cataract, Cutis marmorata, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair... |
ORPHA:974 |
Camurati-Engelmann Disease, Type 2 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:606631 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Lymphadenitis, Inflammation of the large intestine, Nail dystrophy, Erythroderma |
OMIM:615895 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Sparse hair, Synophrys, Thick eyebrow |
OMIM:611091 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Keratoconjunctivitis, Chronic... |
OMIM:269200 |
Mannosidosis, Alpha B, Lysosomal |
|
Sensorineural hearing impairment, Low anterior hairline, Macrotia, Thick eyebrow, Hypertrichosis |
OMIM:248500 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Cataract |
OMIM:613730 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Erythema, Lymphadenopathy, Pan... |
OMIM:619183 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Progeroid facial appearance, Bruising susceptibility, Cutis laxa, Astigmatism, Macro... |
OMIM:208050 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Gastritis, Colitis, Uncombable hair, Woolly hair, Dry ski... |
ORPHA:84064 |
Optic Atrophy 11 |
|
Macrotia, Optic nerve hypoplasia, Hearing impairment |
OMIM:617302 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Synophrys, Low posterior hairline, Macrotia, Hirsutism, Mucosal telangiectasiae |
ORPHA:2463 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cataract, Nail dystrophy, Nail dysplasia |
OMIM:175500 |
Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology |
ORPHA:1515 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:193100 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Alopecia, Myositis, Skin rash, Discoid lupus rash, Lymphadenopathy, Leukopenia, Asci... |
ORPHA:93552 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Mosaic Trisomy 8 |
|
Corneal opacity, Abnormal pinna morphology, Protruding ear, Abnormal antihelix morphology, Macrot... |
ORPHA:96061 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Dry skin |
OMIM:614008 |
Dermatomyositis |
|
Abnormal hair quantity, Pericarditis, Pruritus, Myocarditis, Erythema, Skin ulcer, Arthritis, Dry... |
ORPHA:221 |
Even-Plus Syndrome |
|
Sparse hair, Synophrys, Highly arched eyebrow |
OMIM:616854 |
Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... |
ORPHA:1787 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Jaundice, Loss of eyelashes, Corneal scarring, Conjunctivitis, Cutaneou... |
OMIM:263700 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Cataract, Keratitis, Thickened skin, Hyperkeratosis, Opaci... |
ORPHA:910 |
Kapur-Toriello Syndrome |
|
Cataract, Low posterior hairline, Low-set ears, Conductive hearing impairment, Microphthalmia, Ir... |
OMIM:244300 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Cervical lymphadenopa... |
ORPHA:2686 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615422 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Orthokera... |
ORPHA:79501 |
Rothmund-Thomson Syndrome |
|
Plantar hyperkeratosis, Porokeratosis, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small ... |
ORPHA:2909 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Posteriorly rotated ears, Optic nerve hypoplasia, Sensorineural hearing impairment, Low-set ears,... |
OMIM:612513 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Progeroid facial appearance, Polycystic ovaries, Panniculitis, ... |
ORPHA:79086 |
Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic a... |
ORPHA:77297 |
Oculodentodigital Dysplasia |
|
Dry hair, Cataract, Abnormal pinna morphology, Slow-growing hair, Fine hair, Microcornea, Sparse ... |
OMIM:164200 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating alkaline phosphatase concentration, Hyperparathyroidism |
OMIM:620366 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Ar... |
OMIM:617591 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Large earlobe, Macrotia, Cataract |
ORPHA:2715 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent skin infections, Pneumonia, Pyoderma gangrenosum, Rhinitis, Periodontitis, Recurrent ap... |
ORPHA:486 |
Hurler Syndrome |
|
Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Splenomegaly, Rhinitis, Generalized hi... |
ORPHA:93473 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Recurrent pneumonia, Fine hair, Sparse hair,... |
OMIM:234100 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow |
OMIM:261990 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis |
ORPHA:163966 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615716 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Macrotia, Cataract, Low-set ears |
ORPHA:65286 |
Subcorneal Pustular Dermatosis |
|
Pruritus, Erythema, Pustule, Rheumatoid arthritis |
ORPHA:48377 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Corneal opacity, Erythema, Cheilitis, Hyperkeratosis, Inflammation of ... |
ORPHA:2908 |
Tonne-Kalscheuer Syndrome |
|
Fine hair, Blue irides, Small nail, Concave nail |
OMIM:300978 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Angioedema, Uveitis, Lymphadenopat... |
ORPHA:36412 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Cataract, Anhidrosis, Prematurely ag... |
OMIM:216400 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Macrotia, Abnormal pinna morphology, Profound hearing impairment |
ORPHA:3078 |
Emanuel Syndrome |
|
Astigmatism, Low-set ears, Recurrent otitis media, Macrotia, Hearing impairment |
OMIM:609029 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukocytosis, Skin ulcer, L... |
OMIM:615688 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Supernumerary nipple, Sparse eyebrow, Synophrys, Protruding ear, Low-set ears, Microphthalmia, Hi... |
OMIM:620098 |
Chromosome 5P13 Duplication Syndrome |
|
Sparse hair, Astigmatism, Low posterior hairline |
OMIM:613174 |
Zellweger Syndrome |
|
Cataract, Corneal opacity, Brushfield spots, External ear malformation, Sensorineural hearing imp... |
ORPHA:912 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Long eyelashes, Astigmatism, Skin rash, Low posterior hairline |
OMIM:617523 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Cataract, Widow's peak, Microphthalmia, Congenital conductive ... |
ORPHA:391474 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... |
OMIM:615122 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Sparse eyebrow, Synoph... |
ORPHA:495875 |
Neurotrophic Keratopathy |
|
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... |
ORPHA:137596 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... |
OMIM:617093 |
Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia, Generalized hirsutism |
ORPHA:1915 |
Sympathetic Ophthalmia |
|
Alopecia, Cataract, Poliosis, Erythema, Anterior chamber cells, Posterior synechiae of the anteri... |
ORPHA:79098 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Low-set ears, Sparse hair, Microph... |
OMIM:613451 |
Dubowitz Syndrome |
|
Sparse scalp hair, Abnormal fingernail morphology, Eczema, Hypoplastic toenails, Low anterior hai... |
ORPHA:235 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Episcleritis, Hepatomegaly, Parotitis, Sparse axillary hair, Cardiomegaly, Erythema nodosum, Sple... |
OMIM:256040 |
Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow, Hypohidrosis |
ORPHA:884 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:601859 |
Weaver Syndrome |
|
Deep-set nails, Thin nail, Fine hair, Cutis laxa, Sparse hair, Macrotia |
OMIM:277590 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Ichthyosis |
OMIM:272200 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia, Redundant skin, Prominent veins on trunk, Keratoconjunctivitis sicca, Astigmatism, Macr... |
ORPHA:536532 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Dry skin, Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:2637 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Progeroid facial appearance, Sensorineural hearing impairment, Microphthalmia, Cutaneou... |
OMIM:610651 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Acne, Seborrheic dermatitis |
OMIM:167100 |
Infantile Myofibromatosis |
|
Abnormal hair morphology, Skin ulcer |
ORPHA:2591 |
Keppen-Lubinsky Syndrome |
|
Premature skin wrinkling, Progeroid facial appearance, Abnormally large globe |
ORPHA:435628 |
Subacute Cutaneous Lupus Erythematosus |
|
Hyperkeratosis |
ORPHA:163525 |
Scarf Syndrome |
|
Cutis laxa, Low posterior hairline, Hypoplastic nipples, Webbed neck, Sparse hair |
ORPHA:3134 |
Desbuquois Syndrome |
|
Sparse hair, Abnormal eyelash morphology |
ORPHA:1425 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Foot osteomyelitis, Osteomyelitis, Acral ulceration |
OMIM:162400 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Macs Syndrome |
|
Alopecia, Redundant skin, Sparse eyebrow, Cutis laxa, Sparse hair, Bruising susceptibility |
OMIM:613075 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Astigmatism, Optic nerve hypoplasia, Hyperopic astigmatism, Fine hair |
ORPHA:363686 |
Noonan Syndrome 7 |
|
Curly hair, Low posterior hairline, Large earlobe, Low-set ears, Thickened helices |
OMIM:613706 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coarse hair, Low-set ears |
ORPHA:83617 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Macrotia |
ORPHA:457240 |
Borjeson-Forssman-Lehmann Syndrome |
|
Sparse hair, Cataract, Thick eyebrow |
ORPHA:127 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Po... |
OMIM:602347 |
American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Pallor, Infectious encephalitis |
ORPHA:3386 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:126550 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hearing abnormality, Aplasia/Hypoplasia of the earlobes, Thickened helices, Macrotia, Abnormality... |
ORPHA:1555 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
19P13.13 Microdeletion Syndrome |
|
Macrotia, Long eyelashes, Optic nerve hypoplasia, Low-set ears |
ORPHA:357001 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Immunodeficiency 102 |
|
Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp... |
OMIM:301082 |
Barth Syndrome |
|
Fair hair, Macrotia |
OMIM:302060 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Buphthalmos, Microtia, Atresia of the external... |
OMIM:236670 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
Plague |
|
Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Enterocolitis, Endocarditis, Skin ulcer,... |
ORPHA:707 |
Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Low-set ears, Peters anomaly, Microp... |
OMIM:243605 |
Teebi-Shaltout Syndrome |
|
Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Low-set ears, Sparse hair, Micro... |
OMIM:272950 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Hyperhidrosis, Low posterior hai... |
OMIM:115150 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Wrinkly Skin Syndrome |
|
Redundant skin, Short nail, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet... |
OMIM:278250 |
Farber Disease |
|
Corneal opacity, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Lymphadenopat... |
ORPHA:333 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Microphthalmia |
OMIM:610125 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cataract |
OMIM:618805 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Cataract, Abnormal fingernail morphology, Slow-growing hair, Abnormalit... |
ORPHA:2710 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Psoriasiform dermatitis, Alopecia totalis |
OMIM:615577 |
Cahmr Syndrome |
|
Lamellar cataract, Generalized hypertrichosis |
OMIM:211770 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop... |
OMIM:613179 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Redundant neck skin, Posteriorly rotated ears, Highly arched eyebrow, Low posterior h... |
OMIM:617360 |
Boutonneuse Fever |
|
Skin rash, Maculopapular exanthema, Petechiae, Cervical lymphadenopathy, Lymphadenopathy, Leukope... |
ORPHA:83313 |
Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Sparse hair, Abnormal hair whorl |
ORPHA:2872 |
Shukla-Vernon Syndrome |
|
Sparse hair |
OMIM:301029 |
Neu-Laxova Syndrome |
|
Cataract, Abnormal hair morphology, Abnormal eyelash morphology, Lack of skin elasticity, Pterygi... |
ORPHA:2671 |
Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Hemolytic anemia, Pruritus, Splenomegaly, Scarring alopecia ... |
ORPHA:95159 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:529665 |
Stevens-Johnson Syndrome |
|
Corneal erosion, Conjunctivitis, Acantholysis |
ORPHA:36426 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... |
ORPHA:64743 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu... |
OMIM:616871 |
Martsolf Syndrome 1 |
|
Cataract, Posteriorly rotated ears, Low anterior hairline, Developmental cataract, Low posterior ... |
OMIM:212720 |
Microhydranencephaly |
|
Macrotia |
OMIM:605013 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Bleph... |
ORPHA:158029 |
Hypophosphatasia, Adult |
|
Low alkaline phosphatase |
OMIM:146300 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Den Hoed-De Boer-Voisin Syndrome |
|
Widow's peak, Dry skin, Thick eyebrow |
OMIM:619229 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, ... |
OMIM:300755 |
B4Galt1-Cdg |
|
Splenomegaly, Inflammatory abnormality of the skin, Redundant neck skin, Hepatomegaly |
ORPHA:79332 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Orchitis, Pustule, Erythema, Skin ulcer, Arthritis, Infectious encephali... |
ORPHA:761 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Hypoplasia of the iris, Macrotia |
ORPHA:1422 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Panniculitis, Eczema, Dry skin |
ORPHA:508542 |
Pgm3-Cdg |
|
Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Recurrent ski... |
ORPHA:443811 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes |
OMIM:616367 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Progeroid facial appearance, Splenomegaly, Pan... |
ORPHA:280365 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Progeroid facial appearance |
ORPHA:412057 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Scarring alopecia of scalp, Ectopia pupillae, Astigmatism, Microphthalmia |
OMIM:618727 |
Free Sialic Acid Storage Disease |
|
Skin ulcer |
ORPHA:834 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Wagro Syndrome |
|
Aniridia, Cataract, Corneal opacity, Low-set ears |
OMIM:612469 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Septo-Optic Dysplasia Spectrum |
|
Dry skin |
ORPHA:3157 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Portal hypertension, Biliary hyperplasia, Jaundice, Elevated circu... |
ORPHA:567983 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation... |
ORPHA:556 |
Toxic Epidermal Necrolysis |
|
Corneal erosion, Conjunctivitis, Acantholysis |
ORPHA:537 |
Vitreoretinochoroidopathy |
|
Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract |
OMIM:193220 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:613312 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Anhidrosis, Pneumonia, Splenomegaly, Lymphadenopathy, Hypoplasia ... |
ORPHA:169090 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Abnormal anterior eye segment morphology |
ORPHA:209956 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Cholangitis, Pruritus, Chronic hepatitis, Arthritis... |
ORPHA:3260 |
Chromosome 18Q Deletion Syndrome |
|
Sensorineural hearing impairment, Low anterior hairline, Atresia of the external auditory canal, ... |
OMIM:601808 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Cupped ear, Dry ... |
OMIM:263650 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Rieger anomaly, Primary congenital glaucoma, Buphthalmos, Bilateral sensorineural hearing impairm... |
ORPHA:521445 |
Renpenning Syndrome 1 |
|
Cataract, Brittle hair, Cupped ear, Protruding ear, Sparse hair, Microphthalmia, Macrotia, Sparse... |
OMIM:309500 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Thi... |
OMIM:612199 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Dry skin |
ORPHA:99832 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple |
ORPHA:3224 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair, Cutis marmorata, Lens subluxation, Ectopia lentis |
OMIM:236200 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Albinism, Decreased CD4:CD8 ratio, Splenomegaly, Re... |
OMIM:608233 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Psoriasiform lesion, Pruritus, Iridocycliti... |
ORPHA:85436 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Leukocytosis, Uveitis, Urticaria, Arthritis, Conjunctivitis |
OMIM:120100 |
Leukocyte Adhesion Deficiency, Type I |
|
Skin ulcer, Osteomyelitis, Periodontitis, Chronic mucocutaneous candidiasis |
OMIM:116920 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Anemia, Interstitial pneumonitis, Vasculitis in the skin, Petechiae, ... |
OMIM:620296 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair |
OMIM:127550 |
Vitamin D-Dependent Rickets, Type 2A |
|
Elevated circulating alkaline phosphatase concentration, Secondary hyperparathyroidism, Alopecia ... |
OMIM:277440 |
Marshall Syndrome |
|
Cataract, Sparse eyelashes, Ectopia lentis, Sparse eyebrow, Hypohidrosis, Sparse hair |
ORPHA:560 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Macrotia, Thick eyebrow |
OMIM:300243 |
Phelan-Mcdermid Syndrome |
|
Hypoplastic toenails, Protruding ear, Long eyelashes, Macrotia, Toenail dysplasia, Thick eyebrow,... |
OMIM:606232 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Macrotia, Low-set ears |
OMIM:300260 |
Moebius Syndrome |
|
Microphthalmia, Abnormal pinna morphology, Abnormality of the nail |
OMIM:157900 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... |
ORPHA:822 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia, Cataract, Keratoconjunctivitis, Nail dystrophy, Alopecia universalis |
OMIM:240300 |
Cystinosis |
|
Corneal opacity |
ORPHA:213 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Corneal arcus, Facial telangiecta... |
ORPHA:168569 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424019 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Follicular hyperkeratosis, Hyperhidrosis |
OMIM:254090 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Hirsutism |
OMIM:618087 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Seborrheic dermatitis |
OMIM:210210 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Lacrimal duct stenosis, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow... |
OMIM:604292 |
Chand Syndrome |
|
Curly hair, Dry skin, Nail dysplasia |
ORPHA:1401 |
Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma |
OMIM:252605 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Microcornea, Microtia, Microphthalmia, Iris coloboma |
ORPHA:3301 |
Cousin Syndrome |
|
Posteriorly rotated ears, Low anterior hairline, Microcornea, Low-set ears, Facial hirsutism, Mic... |
OMIM:260660 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... |
ORPHA:100026 |
Familial Dysautonomia |
|
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Hyperhidrosis, Hypohidrosis, Heteroc... |
ORPHA:1764 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Hearing abnormality, Cupped ear, Ocular albinism, Microtia, Microphthalmia |
ORPHA:1352 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Excessive wrinkled skin, Abnormality of subcutaneous fat tissue, Thin skin |
ORPHA:1901 |
Chromosome 18P Deletion Syndrome |
|
Redundant neck skin, Macrotia, Posteriorly rotated ears |
OMIM:146390 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Posteriorly rotated ears, Abnormal eyelash morphology, Low-set ears, Microphthalmia |
OMIM:206920 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the... |
ORPHA:3353 |
Leigh Syndrome |
|
Alopecia, Cataract, Sensorineural hearing impairment, Frontal hirsutism, Macrotia, Hypertrichosis |
ORPHA:506 |
Thanatophoric Dysplasia Type 1 |
|
Excessive wrinkled skin, Redundant skin, Hearing impairment |
ORPHA:1860 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Felty Syndrome |
|
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Thrombocytopenia, Recurrent pn... |
ORPHA:47612 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Astigmatism, Pallor, Conductive hearing impairment, Microphthalmia |
OMIM:609053 |
Scarf Syndrome |
|
Low anterior hairline, Low posterior hairline, Cutis laxa, Hypoplastic nipples, Webbed neck, Spar... |
OMIM:312830 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopath... |
OMIM:301078 |
Tbck-Related Intellectual Disability Syndrome |
|
Corneal opacity, Eczema, Decreased response to growth hormone stimulation test, Cryptorchidism, S... |
ORPHA:488632 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Macrotia, Uplifted earlobe |
ORPHA:364028 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level... |
OMIM:613095 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Atretic gallbladder, Jaundice, Elevated circulating alkaline phosp... |
ORPHA:30391 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Macrotia |
ORPHA:1110 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... |
OMIM:301074 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Eczema, Pustule, Erythema, Palmoplantar hyperkeratosis, Keratoconjunc... |
ORPHA:2907 |
Gm1 Gangliosidosis Type 1 |
|
Macrotia, Hirsutism, Low-set ears, Hearing impairment |
ORPHA:79255 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Poor wound healing, Microcornea, Excessive wrinkled skin, Thin skin, Palmoplantar cu... |
OMIM:225400 |
Menkes Disease |
|
Hypopigmentation of hair, Osteomyelitis, Sparse hair, Woolly hair, Dry skin |
ORPHA:565 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Sensorineural hearing impairment, Cataract, Abnormally large globe |
OMIM:615249 |
Keutel Syndrome |
|
Alopecia |
ORPHA:85202 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Posteriorly rotated ears, Low-set ears |
OMIM:611961 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of the ovary, Abnormality of the... |
ORPHA:3130 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Alopecia, Hyperkeratosis, Congenital ichthyosiform erythroderma, Small nail, Ortho... |
OMIM:308050 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Macrotia, Hypoplastic nipples |
OMIM:618505 |
Rothmund-Thomson Syndrome Type 1 |
|
Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Developmental cataract, Sparse or absent... |
ORPHA:221008 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Increased mean pl... |
OMIM:314050 |
Intermediate Osteopetrosis |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:210110 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pruritus, Splenomegaly, Jaundice, ... |
OMIM:211600 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Large fleshy ears, Posteriorly rotated ears, Low-set ears |
OMIM:616897 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Highly arched eyebrow, Microphthalmia, Low anterior hairline, Low-set ears |
ORPHA:404440 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Microphthalmia, Anophthalmia, Low-set ears |
ORPHA:2189 |
White-Kernohan Syndrome |
|
Synophrys, Broad medial eyebrow, Long eyelashes, Horizontal eyebrow, Low-set ears, Recurrent otit... |
OMIM:619426 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic nerve hypoplasia, Abnormally large globe, Sensorineural hearing impairment, Macrotia, Heari... |
OMIM:300749 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Thickened skin, Peripheral opacification of the cornea, Corneal opacity, Hirsutism |
OMIM:259600 |
Late-Onset Isolated Acth Deficiency |
|
Hepatitis, Hashimoto thyroiditis, Dry skin |
ORPHA:199299 |
Mycophenolate Mofetil Embryopathy |
|
Hypoplastic toenails, Microtia, Anotia, Atresia of the external auditory canal, Microphthalmia, I... |
ORPHA:268249 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Macrotia, Low-set ears |
ORPHA:562528 |
Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo... |
ORPHA:167 |
Pelvis-Shoulder Dysplasia |
|
Abnormal pinna morphology, Bilateral microphthalmos, Microcornea, Microtia, Facial hirsutism, Iri... |
ORPHA:2839 |
Aggressive Systemic Mastocytosis |
|
Elevated total serum tryptase, Elevated circulating alkaline phosphatase concentration, Decreased... |
ORPHA:98850 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Petechiae, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... |
OMIM:619463 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Abnormality of the hairline |
OMIM:248450 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Ascites, Corneal opacity, Hepatitis |
ORPHA:584 |
Developmental And Epileptic Encephalopathy 49 |
|
Macrotia, Long eyelashes, Thick eyebrow |
OMIM:617281 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, Sensorineural hearing impairment, Protruding ear, Low-set ears, Microphth... |
OMIM:614230 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Macrotia |
ORPHA:2575 |
Okamoto Syndrome |
|
Redundant neck skin, Abnormally large globe, Extension of hair growth on temples to lateral eyebr... |
ORPHA:2729 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:52430 |
Kbg Syndrome |
|
Posteriorly rotated ears, Synophrys, Low anterior hairline, Protruding ear, Low posterior hairlin... |
OMIM:148050 |
Goldberg-Shprintzen Syndrome |
|
Highly arched eyebrow, Corneal erosion, Synophrys, Sparse hair, Megalocornea, Corneal ulceration,... |
OMIM:609460 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Sparse eyebrow, Macrotia, Hirsutism |
ORPHA:496641 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Supernumerary nipple, Sparse eyebrow, Microtia, Small nail, Low-set ears, Microphthalmia |
OMIM:612530 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Pruritus, Splenomegaly, Jaundice, B... |
OMIM:617394 |
Fucosidosis |
|
Thick eyebrow, Dry skin, Petechiae |
OMIM:230000 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly, Erythema, Panniculitis, Inflammatory abnormality of the eye |
ORPHA:33577 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Overfolded helix, Macrotia |
ORPHA:324410 |
Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Elevated tissue non-specific alkaline phosphatase, Enlarged polycy... |
ORPHA:785 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Ectodermal dysplasia, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Brittle hair, Developmental cataract |
OMIM:618810 |
Mucolipidosis Iii Alpha/Beta |
|
Thickened skin, Hyperopic astigmatism, Opacification of the corneal stroma |
OMIM:252600 |
Reactive Arthritis |
|
Hyperkeratosis, Conjunctivitis, Abnormality of the nail, Dystrophic fingernails |
ORPHA:29207 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis |
OMIM:612387 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Sparse eyelashes, Sparse eyebrow, Unilateral microphthalmos, Alopecia of scalp, Iris coloboma |
OMIM:618874 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Minimal change glomerulonephritis, Thrombocytopenia, Decreased proportion of nai... |
ORPHA:1830 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro... |
OMIM:614868 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu... |
OMIM:129900 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia |
ORPHA:3191 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Microphthalmia, Megalocornea |
ORPHA:370959 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Sparse body hair |
OMIM:300869 |
Microphthalmia, Lenz Type |
|
Low-set, posteriorly rotated ears, Cataract, External ear malformation, Microcornea, Microphthalm... |
ORPHA:568 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemi... |
ORPHA:331206 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Sparse p... |
ORPHA:2232 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Plethora, Alopecia, Striae distensae, Acne, Dorsocervical fat pad, Pituitary adenoma, Primary hyp... |
ORPHA:189427 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Orofaciodigital Syndrome Type 3 |
|
Low-set ears, Abnormality of hair texture |
ORPHA:2752 |
Tolchin-Le Caignec Syndrome |
|
Abnormal vestibular function, Thick eyebrow, Sensorineural hearing impairment, Low-set ears, Macr... |
OMIM:618971 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Posteriorly rotated ears, Low-set ears, Recurrent otitis media, Microphthalmia, Hearing impairment |
OMIM:618494 |
Xp22.13P22.2 Duplication Syndrome |
|
Sparse hair, High anterior hairline |
ORPHA:284180 |
Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Hypohidrosis, Hyperker... |
ORPHA:324 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Curly hair, Prematurely aged appearance, Thickened helices, ... |
OMIM:619950 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, Keratoglobu... |
ORPHA:3342 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Pruritus, Sp... |
ORPHA:98849 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... |
ORPHA:521219 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Skin rash, Osteomyelitis, Pustule, Splenomegaly, Hyperkeratosis, Stom... |
OMIM:612852 |
Helix Syndrome |
|
Dry skin |
OMIM:617671 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Low-set ears |
OMIM:300863 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Macrotia, Optic nerve hypoplasia |
OMIM:617864 |
Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy, Mixed hearing impairment, Long eyebrows, Widow's peak, Long eyelashes, Small nail, ... |
OMIM:201180 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Developmental cataract, ... |
ORPHA:2108 |
Familial Tumoral Calcinosis |
|
Hepatomegaly, Skin rash, Splenomegaly, Erythema, Hyperhidrosis |
ORPHA:53715 |
Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
8P Inverted Duplication/Deletion Syndrome |
|
Synophrys, Macrotia, Frontal balding |
ORPHA:96092 |
Livedoid Vasculopathy |
|
Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Skin ulcer, M... |
ORPHA:542643 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Sparse hair |
OMIM:620001 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Cataract, Skin rash, Fluctuating splenomegaly, Fluctuating hepatom... |
OMIM:610377 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Prominent superficial veins, Prematurely aged appearance, Telan... |
ORPHA:79474 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233710 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular telangiectasia, Cataract, Hearing impairment |
ORPHA:891 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Holoprosencephaly |
|
Anophthalmia, Highly arched eyebrow, External ear malformation, Synophrys, Abnormal antihelix mor... |
ORPHA:2162 |
Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia, Corneal opacity, Hypoplastic fingernail |
ORPHA:2059 |
Neuroocular Syndrome |
|
Brittle hair, Synophrys, Lens coloboma, Microcornea, Iris coloboma, Hypoplasia of the fovea, High... |
OMIM:619539 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Cupped ear |
OMIM:618914 |
Familial Multiple Nevi Flammei |
|
Skin ulcer |
ORPHA:624 |
Joubert Syndrome 14 |
|
Highly arched eyebrow, Microphthalmia, Posteriorly rotated ears, Low-set ears |
OMIM:614424 |
Xq12-Q13.3 Duplication Syndrome |
|
Cryptorchidism, Low alkaline phosphatase |
ORPHA:314389 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Cryptorchidism, Patchy alopecia, Decreased testicular size |
ORPHA:85279 |
Cohen Syndrome |
|
Thick hair, Abnormal eyelash morphology, Sensorineural hearing impairment, Aplasia/Hypoplasia of ... |
ORPHA:193 |
Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Pallor |
ORPHA:56425 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Cataract, Petechiae, Splenomegaly, Jaundice, Opacification of the corneal stroma, T... |
OMIM:251290 |
Mosaic Trisomy 9 |
|
Microphthalmia, Small nail, Corneal opacity, Low-set ears |
ORPHA:99776 |
Heart And Brain Malformation Syndrome |
|
Attached earlobe, Microphthalmia, Posteriorly rotated ears, Low-set ears |
OMIM:616920 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Abnormal pinna morphology, Absent tragus, Synophrys, Atresia of the external auditory c... |
OMIM:603457 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Elevated alkaline phosphatase of bone origin |
OMIM:167320 |
Say-Barber-Miller Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the hairline, Highly arched eyebrow, Sparse eye... |
ORPHA:3132 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... |
OMIM:266200 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Posteriorly rotated ears, Corneal opacity, Sensorineural hearing impairment, Synophrys, Low-set e... |
OMIM:608670 |
Rothmund-Thomson Syndrome Type 2 |
|
Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Developmental cataract, Sparse or absent... |
ORPHA:221016 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Abnormal hair morphology, Hearing abnormality, Low anterior hairline, Cut... |
ORPHA:647 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Recurrent skin infections, Herpes simplex encephalitis, Decreased proportion of cla... |
OMIM:233600 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:89937 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Skin rash, Osteomyelitis, Pruritus, Arthritis, Palmoplantar pustul... |
ORPHA:324964 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilia, Eosinophilic infiltration of the esophagus, Recurrent pneumonia, Atopic der... |
OMIM:243700 |
Xfe Progeroid Syndrome |
|
Prematurely aged appearance, Corneal scarring, Cutaneous photosensitivity, Dry skin, Hearing impa... |
OMIM:610965 |
Lymphedema-Distichiasis Syndrome |
|
Yellow nails, Distichiasis, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Corneal u... |
OMIM:153400 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis, Pilomatrixoma |
OMIM:620189 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Corneal opacity, Pneumonia, Splenomegaly, Hirsutism |
OMIM:253200 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice,... |
ORPHA:69665 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Splenomegaly, Hypohidrosis, ... |
ORPHA:163746 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233690 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Prominent scalp veins, Cutis marmorata, Sensorineural hearing impairment, Cutis laxa, Sparse hair... |
OMIM:151050 |
Complete Androgen Insensitivity Syndrome |
|
Acne, Sparse axillary hair, Elevated circulating luteinizing hormone level, Sparse pubic hair, Bi... |
ORPHA:99429 |
Chromosome 16P13.3 Duplication Syndrome |
|
Posteriorly rotated ears, Synophrys, Low anterior hairline, Protruding ear, Microtia, Low-set ear... |
OMIM:613458 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Macrotia, Cataract, Zonular cataract, Jaundice |
ORPHA:168577 |
De Sanctis-Cacchione Syndrome |
|
Keratitis, Parakeratosis, Conjunctivitis |
OMIM:278800 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Macrotia |
OMIM:620194 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu... |
OMIM:194380 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Septic arthritis, Osteoarthritis, Osteomyelitis, Acral ulceration |
OMIM:608654 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Inflammatory abnormality of the skin, Severe B lymphocytopenia, Skin rash, Aplasia ... |
OMIM:102700 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Supernumerary nipple, Large earlobe, Hypoplasia of the ear cartilage, Microphthalmia, Iris coloboma |
ORPHA:1236 |
Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Pruritus, S... |
ORPHA:79277 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated... |
OMIM:605814 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Skin rash, Pericarditis, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, ... |
ORPHA:32960 |
Dengue Fever |
|
Hepatomegaly, Skin rash, Petechiae, Pruritus, Bruising susceptibility, Leukopenia, Ascites, Throm... |
ORPHA:99828 |
Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymphocytopenia, Inflammation of the la... |
OMIM:618108 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Episcleritis, Hepatomegaly, Decreased response to growth hormone stimulation test, Cardiomegaly, ... |
OMIM:602782 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Abnormality of the ovary, Hirsutism, Polycystic ovaries |
ORPHA:2795 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Erythroderma |
OMIM:617425 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Synophrys, Fine hair |
OMIM:619428 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... |
OMIM:615234 |
Noonan Syndrome 2 |
|
Sparse eyebrow, Hyperkeratosis, Curly hair, Low posterior hairline |
OMIM:605275 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Corneal opacity, Sclerocornea, Abnormal eyelash morphology, Erythema, Abnormality o... |
ORPHA:2556 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Coloboma, Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Cataract, Redundant skin, Protruding ear, Cutis laxa, Low-se... |
OMIM:617403 |
Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Macrotia |
ORPHA:2167 |
Fanconi-Bickel Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Elevated circulating alanine aminotransf... |
ORPHA:2088 |
Cartilage-Hair Hypoplasia |
|
Low-set, posteriorly rotated ears, Sparse eyebrow, Sparse hair, Macrotia, Aplasia/Hypoplasia affe... |
ORPHA:175 |
Mucopolysaccharidosis, Type Ivb |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:253010 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Leuk... |
ORPHA:536 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Neutropenia |
ORPHA:1667 |
Fraser Syndrome 1 |
|
Absent eyebrow, Anophthalmia, Corneal opacity, Abnormal pinna morphology, Absent eyelashes, Bilat... |
OMIM:219000 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microtia, Recurrent otitis media, Microphthalmia, Abnormality of the outer ear, Hearing impairment |
ORPHA:2728 |
Transketolase Deficiency |
|
Conjunctivitis, Uveitis, Seborrheic dermatitis |
ORPHA:488618 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Corneal ulceration, Recurrent skin infections, Corneal scarring, Hypohidrosis |
OMIM:616488 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration |
OMIM:616026 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Elevated circulating alkaline phosphatase concentration, Small nail, Hyperconvex nail, Highly arc... |
OMIM:239300 |
Cystic Echinococcosis |
|
Elevated hepatic transaminase, Abnormality of the testis size, Jaundice, Ovarian cyst, Elevated c... |
ORPHA:400 |
Bethlem Myopathy |
|
Hyperkeratosis |
ORPHA:610 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Alopecia, Anterior pituitary hypoplasia |
ORPHA:453533 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae |
OMIM:601499 |
Chromosome Xp11.3 Deletion Syndrome |
|
Posterior subcapsular cataract, Cataract, Progeroid facial appearance |
OMIM:300578 |
Immunodeficiency 68 |
|
Recurrent skin infections, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic arthritis,... |
OMIM:612260 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration |
ORPHA:263455 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dry skin |
OMIM:619306 |
Cornelia De Lange Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Cutis marmorata, Curly eyelashes, Highly arched eyeb... |
ORPHA:199 |
Estrogen Resistance |
|
Breast aplasia, Elevated alkaline phosphatase of bone origin, Polycystic ovaries |
OMIM:615363 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
Ane Syndrome |
|
Alopecia, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, R... |
ORPHA:157954 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Fine hair, Hypoplastic nipples, Sparse hair, Dry skin, Sparse lateral eyebrow |
OMIM:280000 |
Ohdo Syndrome, X-Linked |
|
Posteriorly rotated ears, Sparse eyebrow, High anterior hairline, Microtia, Low-set ears, Microph... |
OMIM:300895 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Sparse lateral eyebrow |
OMIM:190351 |
Bdv Syndrome |
|
Macrotia |
OMIM:619326 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Synophrys, Low anterior hairline, Low... |
OMIM:619512 |
Degcags Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Posteriorly rotated ears, Hearing impairme... |
OMIM:619488 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Sparse scalp hair, Prominent scalp veins, Corneal opacity, Opt... |
ORPHA:536471 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Jaundice, Fine hair, Microtia, Low-set ears, Sparse hair, Woolly hair, ... |
OMIM:222470 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Sparse eyebrow, Microphthalmia, Macrotia |
OMIM:616300 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Hyperconvex nail |
OMIM:619721 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Small nail, Supernumerary nipple, Highly... |
ORPHA:247262 |
Monosomy 18Q |
|
Sensorineural hearing impairment, Macrotia, Bilateral conductive hearing impairment, Low anterior... |
ORPHA:1600 |
Autoimmune Hepatitis |
|
Viral hepatitis, Acute hepatitis, Glomerulonephritis, Spider hemangioma, Splenomegaly, Fulminant ... |
ORPHA:2137 |
Acute Adrenal Insufficiency |
|
Dry skin, Sparse axillary hair |
ORPHA:95409 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatospleno... |
OMIM:260920 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Mixed hearing impairment, Absent nipple, Progressive sensorineural hearing impairment, Sparse eye... |
OMIM:620186 |
Warburg-Cinotti Syndrome |
|
Symblepharon, Limbal stem cell deficiency, Decreased corneal thickness, Follicular hyperkeratosis... |
OMIM:618175 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Skin ulcer, Conjunctivitis, Chronic otitis media |
OMIM:608710 |
Gaucher Disease, Perinatal Lethal |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis |
OMIM:608013 |
Mycetoma |
|
Cobblestone-like hyperkeratosis |
ORPHA:2583 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Cataract, Corneal opacity, Pneumonia, Highly arched eyebrow, Hepatosplenomegaly, As... |
ORPHA:309282 |
Mosaic Trisomy 1 |
|
Abnormal pinna morphology, Hypoplastic thumbnail, Low-set ears, Opacification of the corneal stro... |
ORPHA:1692 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Alopecia, Iris coloboma |
ORPHA:2612 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Sparse body hair |
ORPHA:2234 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
Peho Syndrome |
|
External ear malformation, Macrotia |
ORPHA:2836 |
Adrenoleukodystrophy |
|
Alopecia |
OMIM:300100 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Hypoplastic toenails, Portal vein thrombosis, Right ventricular hype... |
OMIM:616028 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Alopecia, Chronic active hepatitis, Decreased response to growth h... |
OMIM:203800 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Chronic oral candidiasis, Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, ... |
OMIM:308230 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Sparse hair |
OMIM:618253 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Leukocoria |
OMIM:257910 |
Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Cataract, Low-set ears, Fine hair |
OMIM:616202 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Cutis laxa, Thick eyebrow, Fine hair |
OMIM:614800 |
Monosomy 22 |
|
Sparse hair, Synophrys, Seborrheic dermatitis |
ORPHA:96123 |
Alagille Syndrome 1 |
|
Cataract, Band keratopathy, Macrotia, Abnormal anterior chamber morphology, Microcornea, Axenfeld... |
OMIM:118450 |
Alzahrani-Kuwahara Syndrome |
|
Cataract, Posteriorly rotated ears, Dry skin, Astigmatism, Low-set ears, Macrotia, Hearing impair... |
OMIM:619268 |
Kanzaki Disease |
|
Hyperkeratosis, Tortuosity of conjunctival vessels |
OMIM:609242 |
Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut... |
OMIM:123700 |
Galloway-Mowat Syndrome |
|
Macrotia, Hypoplasia of the ear cartilage |
ORPHA:2065 |
Kabuki Syndrome |
|
Highly arched eyebrow, Sensorineural hearing impairment, Protruding ear, Microcornea, Long eyelas... |
ORPHA:2322 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Skin rash, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy,... |
OMIM:603553 |
Giant Cell Arteritis |
|
Alopecia, Arthritis, Pericarditis, Skin ulcer |
ORPHA:397 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Posteriorly rotated ears, Uplifted earlobe, Synophrys, Low anterior hairline, Microcornea, Microt... |
OMIM:616734 |
Caroli Disease |
|
Portal hypertension, Intrahepatic cholestasis, Jaundice, Elevated circulating alanine aminotransf... |
ORPHA:53035 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Redundant skin in infancy, Dry skin, Protruding ear, Cutis laxa, Alopecia of s... |
OMIM:150230 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi... |
OMIM:214110 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Acanthosis nigricans, Cataract, Sparse hair |
OMIM:616541 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Peters anomaly |
OMIM:614526 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Developmental cataract, Microcornea, Low-set ears, Microphthalmia |
ORPHA:464738 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
Acrofacial Dysostosis, Cincinnati Type |
|
Macrotia, Anotia, Microtia |
OMIM:616462 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Corneal opacity, Protruding ear, Astigmatism, Macrotia, Breast hypoplasia |
ORPHA:464306 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy |
ORPHA:2483 |
Dubowitz Syndrome |
|
Sparse scalp hair, Protruding ear, Hypoplasia of the iris, Otitis media, Low-set ears, Microphtha... |
OMIM:223370 |
Hawkinsinuria |
|
Sparse hair |
OMIM:140350 |
Distal Duplication 5Q |
|
Macrotia, Low-set ears |
ORPHA:96097 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Leukocytosis, Lymphadenopathy, Increased proportion of CD4-positive T ce... |
OMIM:617099 |
Q Fever |
|
Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Splenomegaly, Thro... |
ORPHA:781 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Synophrys, Erythema,... |
OMIM:619503 |
Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Skin ulcer |
ORPHA:220393 |
Kawasaki Disease |
|
Abnormality of nail color, Pericarditis, Skin rash, Myocarditis, Cervical lymphadenopathy, Leukoc... |
ORPHA:2331 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:600081 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract |
ORPHA:163649 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... |
OMIM:259700 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Elevated circulating aspartate aminotransferase concentration, Cryptorchidism, Jaundice, Elevated... |
OMIM:614866 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Low-set ears |
ORPHA:2470 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Shallow anterior chamber |
OMIM:305390 |
Aicardi-Goutières Syndrome |
|
Myositis, Chilblains, Arthritis, Panniculitis, Dry skin |
ORPHA:51 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Sparse eyelashes, Sparse eyebrow, Widow's peak, Cond... |
ORPHA:306542 |
2P15P16.1 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Supernumerary nipple, Sparse eyebrow, Protruding ear, Fine hair, Long eye... |
ORPHA:261349 |
Systemic Sclerosis |
|
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Alopecia, Nail bed te... |
ORPHA:90291 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Fanconi-Bickel Syndrome |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated... |
OMIM:227810 |
Fanconi Renotubular Syndrome 1 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:134600 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Corneal opacity, Pallor, Microphthalmia, Megalocornea, Congenital aphakia |
ORPHA:137675 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Pruritus, Erythema nodosum, Cervical lymphadenopathy, Crustin... |
ORPHA:324625 |
Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Cataract, Glue ear, Hyperconvex nail, Uplifted earlobe, Sensorineu... |
OMIM:613406 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca |
OMIM:617321 |
Monosomy 9P |
|
Thin nail, Highly arched eyebrow, Synophrys, Low posterior hairline, Abnormal antihelix morpholog... |
ORPHA:261112 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia |
OMIM:618398 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Paronychia, Acral ulceration |
OMIM:201300 |
Holoprosencephaly 7 |
|
Synophrys, Bilateral microphthalmos, Microphthalmia, Macrotia, Iris coloboma |
OMIM:610828 |
Wild Type Attr Amyloidosis |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:330001 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Prominent antihelix, Microphthalmia, Macrotia, Underdevelop... |
OMIM:610829 |
Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
2Q31.1 Microdeletion Syndrome |
|
Hypoplastic toenails, Abnormal hair morphology, Synophrys, Low anterior hairline, Low-set ears, M... |
ORPHA:251014 |
Hypophosphatasia, Infantile |
|
Low alkaline phosphatase |
OMIM:241500 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Microtia, third degree, Microcornea, Anotia, Microphthalmia, Abnormality of the out... |
ORPHA:3412 |
Oculocerebrorenal Syndrome Of Lowe |
|
Low-set, posteriorly rotated ears, Sparse scalp hair, Cataract, Corneal opacity, Abnormal pupil m... |
ORPHA:534 |
Developmental And Epileptic Encephalopathy 95 |
|
Cryptorchidism, Elevated circulating alkaline phosphatase concentration, Low alkaline phosphatase... |
OMIM:618143 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Cataract, Optic nerve hypoplasia, Microtia, Low-set ears, Peters anomaly, Microphthalmia |
OMIM:614643 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Cataract, Calcification of the auricular cartilage, Synophrys, Anonychia, Conductive hearing impa... |
ORPHA:3042 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Dry skin |
ORPHA:90674 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Macrotia |
OMIM:300486 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating alkaline phosphatase concentration, Secondary hyperparathyroidism |
OMIM:264700 |
Scalp-Ear-Nipple Syndrome |
|
Cataract, Abnormal fingernail morphology, Hypohidrosis, Breast aplasia, Sparse hair |
ORPHA:2036 |
Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair |
OMIM:250250 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Sparse eyebrow, Macrotia, Posteriorly rotated ears, Low-set ears |
OMIM:617011 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Elevated circulating alkaline phosphatase concentration, Hypoplastic fingernail |
OMIM:614749 |
Developmental And Epileptic Encephalopathy 80 |
|
Elevated circulating alkaline phosphatase concentration, Small nail |
OMIM:618580 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Progeroid facial appearance, Sensorineural hearing impairment, Cutan... |
OMIM:615919 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hypoplastic fingernail, Synophrys, Large fleshy ears, Microtia, Prominent tragus, Overfolded heli... |
ORPHA:280633 |
Addison Disease |
|
Dry skin, Hashimoto thyroiditis, Sparse axillary hair |
ORPHA:85138 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Foot osteomyelitis, Acral ulceration |
OMIM:256840 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Cohen-Gibson Syndrome |
|
Cataract, Thin nail, Long ear, Low-set ears, Small nail, Macrotia |
OMIM:617561 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Low posterior hairline, Normochromic ane... |
OMIM:611881 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Alopecia, Corneal opacity, Iris coloboma |
ORPHA:2396 |
Asparagine Synthetase Deficiency |
|
Macrotia, Optic nerve hypoplasia, Simple ear |
OMIM:615574 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Corneal opacity, Poor wound healing, Splenomegaly, Abnormality of the spleen, Throm... |
ORPHA:2072 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Recurrent otitis media, Macrotia |
ORPHA:449291 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Microcornea, Follicular hyperkeratosis |
OMIM:614557 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Gaisböck Syndrome |
|
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... |
ORPHA:90041 |
Curry-Jones Syndrome |
|
Microphthalmia, High anterior hairline, Iris coloboma, Hirsutism |
OMIM:601707 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Posteriorly rotated ears, Cupped ear, Large fleshy ears, Low-set ears, Overfolded helix |
OMIM:614080 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Cushing Disease |
|
Plethora, Sparse scalp hair, Purpura, Adrenal hyperplasia, Acne, Dorsocervical fat pad, Poor woun... |
ORPHA:96253 |
Campomelia, Cumming Type |
|
Aplasia/Hypoplasia affecting the eye, Prematurely aged appearance |
ORPHA:1318 |
Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Psoriasiform dermatitis, Alopecia totalis, Nail dystrophy, Abnormality of the periungua... |
ORPHA:293978 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Fine hair, Low-set ears, Hearing impairment |
ORPHA:85201 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Macrotia, Cutis marmorata, Subcutaneous hemorrhage, Telangiectasia |
ORPHA:109 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Nail dystrophy |
OMIM:620040 |
Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Skin ulcer, Arthritis |
ORPHA:464343 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Symblepharon, Trichiasis, Acantholysis, Keratitis, Corneal erosion, Keratoconjunctivitis sicca, C... |
ORPHA:95455 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Posteriorly rotated ears, Uplifted earlobe, Sclerocornea, Protruding ear, Microcorn... |
OMIM:607932 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Skin rash, Thrombocytopenia |
OMIM:253270 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair, Cutis laxa, Dermal translucency |
OMIM:615349 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Macrotia, Thick eyebrow |
ORPHA:457212 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Pruritus, Splenomegaly, Chronic myelogenous leukemia, Hyperhidrosis, Thro... |
ORPHA:71493 |
Noonan Syndrome With Multiple Lentigines |
|
Severe sensorineural hearing impairment, Excessive wrinkled skin, Sensorineural hearing impairmen... |
ORPHA:500 |
Johanson-Blizzard Syndrome |
|
Alopecia, Abnormal hair pattern |
ORPHA:2315 |
White-Sutton Syndrome |
|
Sparse hair, Astigmatism, Iris coloboma |
OMIM:616364 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Mucopolysaccharidosis Type 6 |
|
Chronic otitis media, Splenomegaly, Sinusitis, Opacification of the corneal stroma |
ORPHA:583 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:306400 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Sparse eyelashes... |
ORPHA:125 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Fair hair, Protruding ear, Developmental cataract, Ectodermal dysplasia, Recurrent otit... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Alopecia, Fair hair, Protruding ear, Developmental cataract, Ectodermal dysplasia, Recurrent otit... |
ORPHA:363958 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:241530 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Subcapsular cataract |
ORPHA:98907 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Abnormal subcutaneous fat tissue distribution, Macrotia |
OMIM:212065 |
Osteogenesis Imperfecta, Type Xi |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:610968 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Abn... |
ORPHA:141099 |
Refractory Celiac Disease |
|
Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In... |
ORPHA:398063 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Posteriorly rotated ears, Low-set ears |
OMIM:241410 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Prematurely aged appearance, Redundant skin, Hyperconvex fingernails, Macrotia, Hypoplastic finge... |
ORPHA:2658 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair |
OMIM:614091 |
Brucellosis |
|
Liver abscess, Knee osteoarthritis, Hyperhidrosis, Leukopenia, Abnormality of the liver, Infectio... |
ORPHA:1304 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Prominent superficial veins, Intermittent thrombocytopenia, Perianal abscess, Splen... |
OMIM:612541 |
Hamamy Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Neck pterygia, Low posterior hairline, Sparse hair, Abnormal nu... |
OMIM:611174 |
Mogs-Cdg |
|
Alopecia, Fair hair, Long eyelashes, Hirsutism |
ORPHA:79330 |
Treacher-Collins Syndrome |
|
Cataract, Absent eyelashes, Abnormal hair morphology, Low anterior hairline, Microtia, Conductive... |
ORPHA:861 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Lymphopenia, Autoimmune... |
OMIM:614162 |
Kaufman Oculocerebrofacial Syndrome |
|
Sparse eyebrow, Microcornea, Astigmatism, Thin skin, Sparse hair |
OMIM:244450 |
Glass Syndrome |
|
Sparse hair, Long eyelashes, Thin skin, Nail dysplasia |
OMIM:612313 |
Smith-Kingsmore Syndrome |
|
Curly hair |
OMIM:616638 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Sensorineural ... |
OMIM:206900 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hyperparathyroidism |
ORPHA:93160 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Sensorineural hearing impairment, Protruding ear, Fine hair, Sparse hair, Hearing impai... |
OMIM:241080 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hypoplastic fifth fingernail, Elevated circulating alkaline phosphatase concentration |
OMIM:614207 |
Hermansky-Pudlak Syndrome 9 |
|
Recurrent skin infections, Leukopenia, Ocular albinism, Thrombocytopenia |
OMIM:614171 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Mediastinal lymphadenopathy,... |
ORPHA:169105 |
Fraser Syndrome 2 |
|
Microphthalmia, Low anterior hairline, Atresia of the external auditory canal, Low-set ears |
OMIM:617666 |
Momo Syndrome |
|
Bilateral microphthalmos, Underfolded helix, Hyperconvex nail, Cutis marmorata |
ORPHA:2563 |
Paget Disease Of Bone 2, Early-Onset |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:602080 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Cataract, Microcornea, Pointed helix, Microphthalmia, Abnormal... |
ORPHA:3380 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Elevated circulating alkaline phosphatase concentration |
OMIM:156400 |
Branchiooculofacial Syndrome |
|
Hypoplastic fingernail, Anophthalmia, Cataract, Posteriorly rotated ears, Supernumerary nipple, S... |
OMIM:113620 |
Wrinkly Skin Syndrome |
|
Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins on trunk, Cutis laxa, Ex... |
ORPHA:2834 |
Saul-Wilson Syndrome |
|
Prominent superficial veins, Cataract, Progeroid facial appearance, Sensorineural hearing impairm... |
OMIM:618150 |
Moebius Syndrome |
|
Breast aplasia, Corneal opacity |
ORPHA:570 |
Thakker-Donnai Syndrome |
|
Macrotia, Posteriorly rotated ears |
ORPHA:1780 |
Scleromyxedema |
|
Pruritus, Generalized abnormality of skin, Aged leonine appearance |
ORPHA:167635 |
Aredyld Syndrome |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1133 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Highly arched eyebrow |
OMIM:619135 |
Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Skin ulcer, Inflammatory abn... |
ORPHA:900 |
Lymphedema-Distichiasis Syndrome |
|
Cataract, Recurrent skin infections, Corneal erosion, Tubulointerstitial nephritis, Conjunctiviti... |
ORPHA:33001 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Fine hair, Cutis laxa, Leukopenia, Hemophagocytosis... |
OMIM:222700 |
Ring Chromosome 12 Syndrome |
|
Acne, Cryptorchidism, Hirsutism, Breast hypoplasia, Dystrophic toenail |
ORPHA:1439 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos, Posteriorly rotated ears, Low-set ears |
OMIM:610758 |
Monosomy 13Q14 |
|
Cataract, Protruding ear, Low-set ears, Thickened helices, Microphthalmia, Iris coloboma |
ORPHA:1587 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Macrotia, Hirsutism |
OMIM:608594 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Alopecia |
OMIM:212750 |
Neu-Laxova Syndrome 1 |
|
Cataract, Absent eyelashes, Yellow subcutaneous tissue covered by thin, scaly skin, Low-set ears,... |
OMIM:256520 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Curly hair, Mixed hearing impairment, Cataract, Abnormal finge... |
ORPHA:444077 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Eczema, Thick eyebrow, Seborrheic dermatitis |
ORPHA:369950 |
Leprechaunism |
|
Facial hypertrichosis, Thickened skin, Hyperkeratosis, Acanthosis nigricans, Hypertrichosis |
ORPHA:508 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture |
ORPHA:88618 |
Jacobsen Syndrome |
|
Abnormal eyelash morphology, Microcornea, Macular hypoplasia, Low-set ears, Microphthalmia, Iris ... |
OMIM:147791 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Macrotia |
OMIM:615656 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick... |
ORPHA:73223 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair, Astigmatism |
OMIM:619184 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Cataract |
OMIM:616538 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Abnormality of hair texture, Developmental cataract |
ORPHA:79351 |
Cerebellar-Facial-Dental Syndrome |
|
Cataract, Sparse eyebrow, Fine hair, Low-set ears, Sparse hair |
ORPHA:444072 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Interface... |
ORPHA:562639 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Primary Biliary Cholangitis |
|
Portal hypertension, Jaundice, Hepatitis, Elevated circulating alkaline phosphatase concentration... |
ORPHA:186 |
Relapsing Polychondritis |
|
Alopecia, Cataract, Keratitis, Erythema, Conjunctivitis, Purpura |
ORPHA:728 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Pallor, Poikilocytosis, Prol... |
OMIM:300908 |
Dyggve-Melchior-Clausen Disease |
|
Corneal opacity |
ORPHA:239 |
Alg9-Cdg |
|
Low-set, posteriorly rotated ears, Low posterior hairline, Large fleshy ears, Hypoplastic nipples... |
ORPHA:79328 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Macrotia |
OMIM:616051 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... |
OMIM:616084 |
Bainbridge-Ropers Syndrome |
|
Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Long eyelashes, Thin eyebrow, ... |
OMIM:615485 |
Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Eosinophilia, Pneumonia, Pruritus, Abnormality of the spl... |
ORPHA:228123 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Corneal opacity, Microphthalmia, Hearing impairment |
ORPHA:1052 |
Wilson Disease |
|
Hypoparathyroidism, Hemolytic anemia, Hepatomegaly, Splenomegaly, Atypical or prolonged hepatitis... |
OMIM:277900 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Alopecia, Onychogryposis |
OMIM:248370 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair |
OMIM:300986 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Cataract, Sparse eyelashes, Pterygium of nails, Premature gray... |
OMIM:305000 |
Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthritis, Erythema, Lymphaden... |
ORPHA:342 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals |
OMIM:219900 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Anteverted ears, Sensorineural hearing impairment, Protruding ear, Low-set ears, Macrotia, Hirsutism |
ORPHA:459070 |
Marden-Walker Syndrome |
|
Microphthalmia, Low-set ears |
OMIM:248700 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Macrotia |
OMIM:300912 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:307800 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Brittle hair, Cardiomegaly, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Recu... |
OMIM:252500 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration |
ORPHA:67 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level |
ORPHA:247691 |
Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea, Sparse eyebrow, Sparse hair, Hearing impairment |
OMIM:619869 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Chronic gastritis, Psoriasiform dermatitis, Skin rash, Liver abscess, Cholangiti... |
ORPHA:183675 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair |
ORPHA:457485 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Abnormal pinna morphology, Posteriorly rotated ears, Sensorineural hearing impairment, Widow's pe... |
OMIM:616975 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cataract, Posteriorly rotated ears, Redundant neck skin, Brushfield spots, Sensorineural hearing ... |
OMIM:214100 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Psoriasiform dermatitis, Nail dystrophy, Sparse hair, Alopecia of scalp |
ORPHA:436252 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia |
OMIM:613150 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f... |
OMIM:617156 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Macrotia, Hirsutism |
OMIM:269700 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Osteogenesis Imperfecta, Type Xx |
|
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow |
OMIM:618644 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Thrombocytopeni... |
OMIM:274000 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia, Sensorineural hearing impairment, Abnormality of the outer ear |
ORPHA:435638 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Abnormality of the outer ear, Low-set ears, Fine hair |
ORPHA:251028 |
Focal Dermal Hypoplasia |
|
Ridged nail, Mixed hearing impairment, Anophthalmia, Brittle hair, Supernumerary nipple, Ectopia ... |
OMIM:305600 |
Steinfeld Syndrome |
|
Microphthalmia, Abnormal pinna morphology, Iris coloboma, Hearing impairment |
OMIM:184705 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Lymphaden... |
ORPHA:1572 |
Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... |
OMIM:608156 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Dry skin |
OMIM:210710 |
Myhre Syndrome |
|
Cataract, Fine hair, Microtia, Low-set ears, Sparse hair, Microphthalmia, Thick eyebrow, Hearing ... |
OMIM:139210 |
Frontofacionasal Dysplasia |
|
Cataract, Microcornea, Absent inner eyelashes, Microphthalmia, Iris coloboma |
OMIM:229400 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Cataract, Microtia, Low-set ears, Sparse hair, Microphthalmia |
OMIM:620005 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Intrahepatic cholestasis, Jaundice, Elevated ... |
ORPHA:480520 |
Biotinidase Deficiency |
|
Alopecia, Decreased circulating biotinidase concentration |
ORPHA:79241 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormality of hair texture, Splenomegaly, Lymphadenopathy, Pallor, Otitis media, C... |
ORPHA:667 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Peters anomaly, Microphthalmia, Iris coloboma, Hearing impairment |
OMIM:309801 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Ectopia lentis, Keratoconjuncti... |
OMIM:616914 |
Craniometadiaphyseal Dysplasia |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:269300 |
Proteus Syndrome |
|
Thymus hyperplasia, Cataract, Central heterochromia, Testicular neoplasm, Neoplasm of the thymus,... |
ORPHA:744 |
Carpenter Syndrome 1 |
|
Abnormal pinna morphology, Sensorineural hearing impairment, Microcornea, Low-set ears, Opacifica... |
OMIM:201000 |
Roberts Syndrome |
|
Cataract, External ear malformation, Sparse hair, Microphthalmia, Absent earlobe |
ORPHA:3103 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Hepatitis, Bron... |
OMIM:619381 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibrosis, Neoplasm of the gal... |
ORPHA:171 |
Distal Deletion 19P |
|
Alopecia, Thick eyebrow |
ORPHA:96129 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Macrotia, Low-set ears |
OMIM:277400 |
Noonan Syndrome 1 |
|
Woolly hair, Dry skin, Synovitis, Low posterior hairline |
OMIM:163950 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Kabuki Syndrome 1 |
|
Posteriorly rotated ears, Highly arched eyebrow, Sparse eyebrow, Prominent eyelashes, Protruding ... |
OMIM:147920 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Sclerocornea |
OMIM:300952 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocyto... |
ORPHA:391487 |
Van Den Ende-Gupta Syndrome |
|
Abnormal eyebrow morphology, Posteriorly rotated ears, Sclerocornea, Overfolded helix, Protruding... |
OMIM:600920 |
Oncogenic Osteomalacia |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:352540 |
Ring Chromosome 13 Syndrome |
|
Alopecia, Macrotia, Posteriorly rotated ears |
ORPHA:96176 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Sinusitis, Pneumonia, Pustule, Skin ulcer, Infectious encephalitis |
ORPHA:68 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Testicular adrenal rest tumor, Hirsutism, Polycystic ovaries |
ORPHA:90795 |
Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Widow's peak, Breast hypoplasia, Low posterior hairline, Uni... |
OMIM:304110 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Aspiration pneumonia, Seborrheic dermatitis |
OMIM:301072 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypoplastic helices, Macrotia, Low-set ears |
OMIM:600460 |
Atelis Syndrome 2 |
|
Microphthalmia, Protruding ear, Low-set ears, Developmental cataract |
OMIM:620185 |
Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Trichorrhexis nodosa |
OMIM:207900 |
Congenital Disorder Of Deglycosylation 1 |
|
Anhidrosis, Corneal ulceration, Corneal opacity, Hyperhidrosis |
OMIM:615273 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Aplasia of the sweat glands, Septic arthritis, Dry skin, Recurrent aspi... |
ORPHA:642 |
Mullerian Aplasia And Hyperandrogenism |
|
Acne, Hirsutism |
OMIM:158330 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Posteriorly rotated ears, Asymmetry of the ears, Anteverted ears, Sensorineural hea... |
OMIM:300166 |
Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Skin rash, Chilblains, Pancytopenia,... |
OMIM:615846 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia |
OMIM:602361 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Alopecia, Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, A... |
ORPHA:286 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcoria, Uveal ectropion, Hypoplasia... |
OMIM:609049 |
Chromosome 13Q14 Deletion Syndrome |
|
Supernumerary nipple, Anteverted ears, Low-set ears, Microphthalmia, Iris coloboma, Hearing impai... |
OMIM:613884 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Low-set, posteriorly rotated ears, Broad eyebrow, Macrotia, Sparse eyebrow |
ORPHA:457359 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Sparse body hair |
ORPHA:3068 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Cataract, Corneal opacity, Cryptorchidism, Chronic myelogenous leukemia, ... |
ORPHA:636 |
Yunis-Varon Syndrome |
|
Sparse scalp hair, Cataract, Abnormal pinna morphology, Sparse eyelashes, Sclerocornea, Redundant... |
ORPHA:3472 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Cataract, Sensorineural hearing impairment, Protruding ear, Astigmatism, Macrotia |
ORPHA:500095 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Skin ras... |
ORPHA:35078 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Hennekam Syndrome |
|
Lymphopenia, Sparse axillary hair, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Lym... |
ORPHA:2136 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Dry skin |
OMIM:218700 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Bruising susceptibility, Anemic pallor, Hearing impairment |
OMIM:600901 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Skin rash, Stomatitis, Elevated circulating growth hormon... |
ORPHA:97280 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Abnormal pinna morphology, Low posterior hairline, Microtia, Low-set ears, Microphthalmia |
OMIM:617925 |
Infantile Systemic Hyalinosis |
|
Skin ulcer |
ORPHA:2176 |
Hyperparathyroidism, Transient Neonatal |
|
Ovarian cyst, Elevated circulating alkaline phosphatase concentration, Hyperparathyroidism |
OMIM:618188 |
Smith-Lemli-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Hypopigmentation of hair, Cataract, Cutis marmorata, Sclerocor... |
ORPHA:818 |
Cowden Syndrome |
|
Palmoplantar keratoderma, Generalized hyperkeratosis, Conjunctival hamartoma, Cataract |
ORPHA:201 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Astigmatism, Corneal opacity |
ORPHA:464311 |
Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Cataract, Sclerocornea, Aplasia/Hypoplasia of th... |
ORPHA:564 |
22Q11.2 Deletion Syndrome |
|
Acne, Seborrheic dermatitis, Arthritis, Chronic otitis media, Purpura |
ORPHA:567 |
Meckel Syndrome 14 |
|
Microphthalmia, Cyanosis, Low-set ears |
OMIM:619879 |
Larsen Syndrome |
|
Conductive hearing impairment, Corneal opacity, Short nail, Hearing impairment |
OMIM:150250 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, Abnormality of the ear, Low-set ea... |
ORPHA:171929 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Microcornea, Synophrys, Follicular hyperkeratosis |
ORPHA:536545 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Cranioectodermal Dysplasia 1 |
|
Slow-growing hair, Short nail, Thin nail, Protruding ear, Fine hair, Ectodermal dysplasia, Low-se... |
OMIM:218330 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:239000 |
Al Amyloidosis |
|
Elevated circulating alkaline phosphatase concentration, Abnormal salivary gland morphology |
ORPHA:85443 |
Williams Syndrome |
|
Low-set, posteriorly rotated ears, Flat cornea, Corneal opacity, Cataract, Abnormal fingernail mo... |
ORPHA:904 |
Cat Eye Syndrome |
|
Low-set ears, Microphthalmia, Stenosis of the external auditory canal, Iris coloboma, Hearing imp... |
OMIM:115470 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair, Astigmatism |
OMIM:619934 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Bilateral microphthalmos, Preauricular hair displacement, Microtia, Atres... |
OMIM:154500 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Alopecia, Skin rash, Pneumonia, Enlarged polycystic ovaries, Thrombocytopenia, ... |
ORPHA:2298 |
6Q Terminal Deletion Syndrome |
|
Hyperkeratosis, Low anterior hairline, Highly arched eyebrow |
ORPHA:75857 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Alopecia totalis |
OMIM:618775 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid... |
ORPHA:42775 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ... |
OMIM:175780 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Redundant skin, Progeroid facial appearance, Recurrent pneumonia, Cutis laxa, H... |
OMIM:613177 |
Duane-Radial Ray Syndrome |
|
Cataract, Optic disc hypoplasia, Sensorineural hearing impairment, Slit-like opening of the exter... |
OMIM:607323 |
Marshall-Smith Syndrome |
|
Thick eyebrow, Brittle hair, Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Hypertrich... |
OMIM:602535 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Corneal opacity, Splenomegaly, Thrombocytopenia, Osteo... |
ORPHA:355 |
Chronic Graft Versus Host Disease |
|
Alopecia, Poor wound healing, Erythema, Skin ulcer, Keratoconjunctivitis sicca, Onycholysis, Nail... |
ORPHA:99921 |
Fryns Syndrome |
|
Anonychia, Low-set ears, Small nail, Abnormal helix morphology, Microphthalmia, Opacification of ... |
OMIM:229850 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Bruising susceptibility, Anemic pallor, Hearing impairment |
OMIM:227650 |
Digeorge Syndrome |
|
Acne, Parathyroid agenesis, Sclerocornea, Seborrheic dermatitis, Splenomegaly, Thrombocytopenia, ... |
OMIM:188400 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Elevated circulating alkaline phosphatase concentration, Annular pancreas |
OMIM:618162 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Skin rash, Recurrent skin infections, Osteomyelitis, Pustule, Syno... |
ORPHA:793 |
Eiken Syndrome |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:600002 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Plethora, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm ... |
ORPHA:99889 |
Crimean-Congo Hemorrhagic Fever |
|
Hyperhidrosis, Leukopenia, Conjunctivitis, Cholecystitis, Morbilliform rash, Ecchymosis, Hepatome... |
ORPHA:99827 |
Wolf-Hirschhorn Syndrome |
|
Low-set, posteriorly rotated ears, Sclerocornea, Highly arched eyebrow, High anterior hairline, L... |
ORPHA:280 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Boudin-Mortier Syndrome |
|
Elevated alkaline phosphatase of bone origin |
OMIM:619543 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Small nail, Seborrheic dermatitis |
OMIM:300868 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Jaundice, Elevated circulating alk... |
ORPHA:275761 |
Monosomy 9Q22.3 |
|
Microphthalmia, Thickened ears, Cataract, Low-set ears |
ORPHA:77301 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Optic disc hypoplasia, Sensorineural hearing impairment, Microcornea, Conductive hearin... |
ORPHA:959 |
Papillorenal Syndrome |
|
Microphthalmia, Sensorineural hearing impairment, Cataract, Lens luxation |
OMIM:120330 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Elevated hemoglobin A1c, Progeroid facial appearance, Sparse eyebrow, Palmoplantar ... |
OMIM:619127 |
Pseudotrisomy 13 Syndrome |
|
Microphthalmia, Posteriorly rotated ears, Low-set ears |
OMIM:264480 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair |
ORPHA:935 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Paronychia, Fragile skin, Abnormal cornea morphology, Nail dystrophy, Anonychia, Abnorm... |
ORPHA:79404 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma |
OMIM:231005 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Brittle hair, Elevated circulating alkaline phosphatase concentrat... |
OMIM:124000 |
Reynolds Syndrome |
|
Hepatomegaly, Pruritus, Splenomegaly, Erythema nodosum, Jaundice, Biliary cirrhosis, Cholestasis,... |
OMIM:613471 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Sparse hair, Brittle hair, Fine hair |
OMIM:618891 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Cataract, Acne, Pericarditis, Orchitis, Splenomegaly, ... |
ORPHA:117 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia, Posteriorly rotated ears, Hearing impairment |
OMIM:619148 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Macrotia, Recurrent otitis media |
OMIM:251260 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Cataract, Sutural cataract, Highly arched eyebrow, Frontal balding, Sensorineural hearing impairm... |
OMIM:612474 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia, Low-set ears |
OMIM:251230 |
Acromegaly |
|
Abnormal fingernail morphology, Synophrys, Abnormal toenail morphology, Macrotia, Generalized hir... |
ORPHA:963 |
Somatomammotropinoma |
|
Abnormal fingernail morphology, Synophrys, Abnormal toenail morphology, Macrotia, Generalized hir... |
ORPHA:314769 |
Pallister-Hall Syndrome |
|
Posteriorly rotated ears, Microtia, Atresia of the external auditory canal, Nail dysplasia, Micro... |
OMIM:146510 |
Primrose Syndrome |
|
Sparse scalp hair, Calcification of the auricular cartilage, Absent facial hair, Synophrys, Super... |
OMIM:259050 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Low anterior hairline |
OMIM:618569 |
Raine Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Highly arched eyebrow |
OMIM:259775 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arth... |
OMIM:249100 |
Renal Cysts And Diabetes Syndrome |
|
Abnormality of alkaline phosphatase level, Pancreatic hypoplasia, Elevated hepatic transaminase |
OMIM:137920 |
Oculoectodermal Syndrome |
|
Supernumerary nipple, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid |
OMIM:600268 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Corneal opacity, Splenomegaly, Enlarged tonsils, Hepatosplenomegaly, Arthritis, Increased size of... |
ORPHA:217085 |
Gorham-Stout Disease |
|
Elevated alkaline phosphatase of bone origin |
ORPHA:73 |
Fibrous Dysplasia Of Bone |
|
Testicular neoplasm, Elevated circulating growth hormone concentration, Ovarian cyst, Elevated ci... |
ORPHA:249 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Posteriorly rotated ears, Abnormal pinna morphology, Low-set ears, Opa... |
OMIM:268300 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Corneal opacity, Splenomegaly, Enlarged tonsils, Hepatosplenomegaly, Arthritis, Increased size of... |
ORPHA:217093 |
Mucolipidosis Type Ii |
|
Dry hair, Sensorineural hearing impairment, White hair, Fine hair, Otitis media, Conductive heari... |
ORPHA:576 |
Monosomy 22Q13.3 |
|
Hypoplastic toenails, Long eyelashes, Macrotia, Thick eyebrow, Hearing impairment |
ORPHA:48652 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... |
ORPHA:247598 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Sensorineural hearing impairment, Cataract, Iris coloboma |
ORPHA:250989 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Seborrheic dermatitis |
ORPHA:276280 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Intermittent jaun... |
ORPHA:100085 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Cutis marmorata, Supernumerary nipple, Small nail, Microphthalmia |
OMIM:100300 |
Restrictive Dermopathy |
|
Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl... |
ORPHA:1662 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Low alkaline phosphatase |
ORPHA:369837 |
Fanconi Anemia, Complementation Group F |
|
Conductive hearing impairment, Microphthalmia, Microtia |
OMIM:603467 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Portal hy... |
ORPHA:84081 |
Isolated Arrhinia |
|
Microphthalmia, Microtia |
ORPHA:1134 |
Lathosterolosis |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas... |
OMIM:607330 |
X-Linked Intellectual Disability, Armfield Type |
|
Macrotia, Cataract, Long ear |
ORPHA:85276 |
Meckel Syndrome, Type 2 |
|
Microphthalmia |
OMIM:603194 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail |
OMIM:614813 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Iris coloboma, Cataract |
ORPHA:2250 |
Lymphatic Filariasis |
|
Hyperkeratosis |
ORPHA:2035 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Bruising susceptibility, Anemic pallor, Hearing impairment |
OMIM:227645 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Arthritis, Acral ulcerat... |
ORPHA:91139 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Buphthalmos, Hypoplasia of the retina, Pallor, Opacification of the corneal stroma, Mic... |
OMIM:253280 |
Lathosterolosis |
|
Microcornea, Cataract, Opacification of the corneal stroma |
ORPHA:46059 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Elevate... |
ORPHA:94093 |
Sarcoidosis |
|
Increased T cell count, Uveitis, Leukopenia, Tubulointerstitial nephritis, Hemolytic anemia, Alop... |
ORPHA:797 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Highly arched eyebrow, External ear malformation... |
ORPHA:138 |
Autoimmune Polyendocrinopathy Type 3 |
|
Anterior pituitary dysgenesis, Alopecia, Hepatitis, Autoimmune hypoparathyroidism |
ORPHA:227982 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Corneal opacity, Splenomegaly, Enlarged tonsils, Hip osteoarthritis |
ORPHA:580 |
Mucopolysaccharidosis, Type Iva |
|
Opacification of the corneal stroma |
OMIM:253000 |
Colchicine Poisoning |
|
Alopecia |
ORPHA:31824 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Anotia, Microtia, Low-set ears |
OMIM:614083 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Dry hair, Posteriorly rotated ears, Abnormal pinna morphology, Cutis marmorata... |
OMIM:135900 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Hearing impairment, Microphthalmia, Iris coloboma, Hypertrichosis |
ORPHA:508498 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Low-set ears, Microphthalmia, Bruising susceptibility, Hearing impairment |
OMIM:227646 |
Thauvin-Robinet-Faivre Syndrome |
|
Sensorineural hearing impairment, Macrotia, Protruding ear |
OMIM:617107 |
Exercise-Induced Malignant Hyperthermia |
|
Dry skin |
ORPHA:466650 |
Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Dry hair |
OMIM:311200 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Atresia of the external auditory canal, Microphthalmia, Abnormality of the outer ear, Iris colobo... |
ORPHA:3186 |
Joubert Syndrome 2 |
|
Microphthalmia, Low-set ears |
OMIM:608091 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia, Developmental cataract |
OMIM:606519 |
Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia, Hepatitis, Anterior pituitary dysgenesis |
ORPHA:227990 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Tubulointerstitial nephritis, Cholecystitis, Sialadenitis, Abnormal mesentery morp... |
ORPHA:449395 |
Viss Syndrome |
|
Exostosis of the external auditory canal, Sparse scalp hair, Alopecia, Prominent superficial bloo... |
OMIM:619472 |
Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:618548 |
Gallbladder Neuroendocrine Tumor |
|
Elevated alkaline phosphatase of hepatic origin, Elevated gamma-glutamyltransferase level, Interm... |
ORPHA:100086 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Low-set ears |
OMIM:617729 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia, Cataract |
OMIM:253800 |
Branchioskeletogenital Syndrome |
|
Attached earlobe, Mixed hearing impairment, Absent nipple, Highly arched eyebrow, Synophrys, Larg... |
ORPHA:1299 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Recurrent skin infections, Glomerulonephritis, Corneal erosion, Gastrointestinal inflammation, Ir... |
ORPHA:79408 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Inflammatory abnormality of the skin, Pneumonia, Jaundice |
ORPHA:26793 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:619525 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Redundant neck skin, Posteriorly rotated ears, Thin nail, Concave nai... |
OMIM:218040 |
Microphthalmia With Limb Anomalies |
|
Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Large earlobe, Microphthalmia, Tr... |
ORPHA:1106 |
Mowat-Wilson Syndrome |
|
Cataract, Uplifted earlobe, Supernumerary nipple, Cupped ear, Microcornea, Large earlobe, Ectopia... |
OMIM:235730 |
Generalized Glucocorticoid Resistance Syndrome |
|
Frontal balding, Adrenal hyperplasia, Acne, Hirsutism |
ORPHA:786 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Sparse hair |
OMIM:614114 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urinary bladder inflammation, Pterygium, Recurrent skin infections, Nail dystrophy |
ORPHA:79403 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Elevated alkaline phosphatase of bone origin |
ORPHA:157215 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Cupped ear, Antecubital pterygium, Popliteal pterygium, Aplasia/Hypoplasia of the nails, Micropht... |
OMIM:609945 |
Holoprosencephaly 14 |
|
Macrotia, Low-set ears |
OMIM:619895 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevat... |
OMIM:619991 |
Limb Body Wall Complex |
|
Lens subluxation, Corneal opacity, Iris coloboma |
ORPHA:2369 |
Osteogenesis Imperfecta |
|
Corneal opacity, Osteoarthritis, Hyperhidrosis, Cutis laxa, Bruising susceptibility, Thrombocytop... |
ORPHA:666 |
Distal Deletion 12Q |
|
Prominent ear helix, Fine hair, Microtia, Bilateral conductive hearing impairment, Small nail, Lo... |
ORPHA:96149 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Vacuolated lymphocytes, Pancrea... |
ORPHA:565612 |
Aicardi Syndrome |
|
Microphthalmia, Sparse lateral eyebrow, Protruding ear |
ORPHA:50 |
Autosomal Recessive Robinow Syndrome |
|
Alopecia, Long eyelashes, Fingernail dysplasia |
ORPHA:1507 |
Mend Syndrome |
|
Microphthalmia, Cataract, Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3464 |
Adrenomyeloneuropathy |
|
Frontal balding, Fine hair |
ORPHA:139399 |
Classical Ehlers-Danlos Syndrome |
|
Striae distensae, Prematurely aged appearance, Poor wound healing, Abnormal cornea morphology, Ec... |
ORPHA:287 |
Fraser Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Abnormal hair pattern, External ear malformation... |
ORPHA:2052 |
Autosomal Dominant Robinow Syndrome |
|
Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Ridged fingernail, Onychogryposi... |
ORPHA:3107 |
Adenocarcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424016 |
Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Microtia, second degree, Cataract, Corneal opacity, Microcorne... |
ORPHA:709 |
Thrombocytopenia 1 |
|
Eczema, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility, C... |
OMIM:313900 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia |
OMIM:259770 |
Cerebrotendinous Xanthomatosis |
|
Juvenile cataract, Prematurely aged appearance, Abnormal auditory evoked potentials, Prolonged ne... |
ORPHA:909 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sparse hair, Optic disc coloboma, Frontal hirsutism, Astigmatism |
OMIM:617157 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Penetrating foot ulcers |
ORPHA:99956 |
Osteopetrosis With Renal Tubular Acidosis |
|
Conductive hearing impairment, Macrotia |
ORPHA:2785 |
Bartter Syndrome, Type 2, Antenatal |
|
Macrotia, Abnormally large globe |
OMIM:241200 |
Restrictive Dermopathy 1 |
|
Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Absent eyelashes, Sparse eyebrow, Aplasia... |
OMIM:275210 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Sparse body hair, Breast hypoplasia |
ORPHA:432 |
Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:90307 |
Cranioectodermal Dysplasia 2 |
|
Sparse eyelashes, Sparse eyebrow, Cutis laxa, Ectodermal dysplasia, Sparse hair |
OMIM:613610 |
Tetraamelia Syndrome 1 |
|
Microphthalmia, Cataract, Low-set ears |
OMIM:273395 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Progeroid facial appearance, Abnormally large globe |
OMIM:614098 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:109400 |
Townes-Brocks Syndrome 1 |
|
Overfolding of the superior helices, Sensorineural hearing impairment, Microtia, Stahl ear, Satyr... |
OMIM:107480 |
Aicardi Syndrome |
|
Microphthalmia, Cataract, Sparse lateral eyebrow |
OMIM:304050 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Alopecia, Decreased response to growth hormone stimulation test, E... |
ORPHA:273 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated alkaline phosphatase of bone origin, Secondary hyperparathyroidism |
ORPHA:289157 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Sparse hair |
OMIM:300661 |
Yunis-Varon Syndrome |
|
Sparse scalp hair, Cataract, Absent nipple, Sparse eyelashes, Sclerocornea, Redundant neck skin, ... |
OMIM:216340 |
Fanconi Anemia |
|
Cataract, External ear malformation, Hearing abnormality, Aplasia/Hypoplasia of the iris, Astigma... |
ORPHA:84 |
Keutel Syndrome |
|
Recurrent otitis media, Macrotia, Calcification of the auricular cartilage, Hearing impairment |
OMIM:245150 |
Zttk Syndrome |
|
Curly hair, Sparse eyebrow, Protruding ear, Low-set ears, Broad eyebrow |
OMIM:617140 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Developmental cataract |
OMIM:127000 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos, Low-set ears |
OMIM:601186 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Neck pterygia, Low posterior hair... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Neck pterygia, Low posterior hair... |
ORPHA:99228 |
Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Neck pterygia, Low posterior hair... |
ORPHA:99226 |
Turner Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Neck pterygia, Low posterior hair... |
ORPHA:881 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow |
ORPHA:2636 |
Phakomatosis Pigmentokeratotica |
|
Patchy alopecia, Hyperhidrosis |
ORPHA:2874 |
Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Cataract, Posteriorly rotated ears, Sparse eyelashes, Supernumerary ... |
OMIM:601803 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Elevated alkaline phosphatase of bone origin |
ORPHA:85188 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Sparse scalp hair, Highly arched eyebrow, Sparse eyebrow, Synophrys, Low anterior hairline, Long ... |
OMIM:619841 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia |
ORPHA:2166 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Low-set, posteriorly rotated ears, Curly hair, Cataract, Hypertrichosis, Astigmatism, Hypoplastic... |
ORPHA:480880 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Recurrent pneumonia, Dry skin |
ORPHA:99646 |
X-Linked Hypophosphatemia |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:89936 |
Charge Syndrome |
|
Mixed hearing impairment, Anophthalmia, Cataract, Lop ear, Aplasia of the semicircular canal, Sen... |
OMIM:214800 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Optic nerve hypoplasia, Bilateral microphthalmos, Thin ear hel... |
ORPHA:468631 |
Townes-Brocks Syndrome |
|
Cataract, External ear malformation, Abnormal tragus morphology, Microtia, Limbal dermoid, Microp... |
ORPHA:857 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Hypoplasia of the ovary, Decreased testicular size |
OMIM:619321 |
African Trypanosomiasis |
|
Alopecia, Keratitis, Jaundice, Conjunctivitis, Iritis |
ORPHA:3385 |
Menke-Hennekam Syndrome 1 |
|
Sparse hair, Cataract, Long eyelashes, Thick eyebrow |
OMIM:618332 |
Meckel Syndrome, Type 1 |
|
Microphthalmia, Iris coloboma, Low-set ears |
OMIM:249000 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Sparse pubic hair, Sparse body hair, Sparse axillary hair |
ORPHA:90796 |
Craniofacial Microsomia 1 |
|
Anophthalmia, Conductive hearing impairment, Sensorineural hearing impairment, Anotia, Microtia, ... |
OMIM:164210 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Anterior pitu... |
OMIM:619534 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Osteomyelitis leading to amputation due to slow healing fractures, Acral ulceration |
OMIM:256810 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Curly hair, Optic nerve hypoplasia, Sparse eyebrow, Protruding ear, Low-set ears, Broad lateral e... |
ORPHA:500150 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia, Dense posterior cortical cataract, Corneal scarring, Developmental cataract |
OMIM:309000 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Sparse hair, Nail dysplasia |
OMIM:616682 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Abnormal pinna morphology, Microcornea, Ciliary body coloboma, Low-set ears, Recurr... |
OMIM:309800 |
Pallister-Hall Syndrome |
|
Low-set, posteriorly rotated ears, Auricular tag, Microtia, Atresia of the external auditory cana... |
ORPHA:672 |
8Q24.3 Microdeletion Syndrome |
|
Posteriorly rotated ears, Optic nerve hypoplasia, Asymmetry of the ears, Highly arched eyebrow, B... |
ORPHA:508488 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Iris atrophy, Cataract, Posteriorly rotated ears, Uplifted earlobe, Highly arched eyebrow, Abnorm... |
ORPHA:261552 |
Split Cord Malformation |
|
Tufted hairs, Penetrating foot ulcers, Hypertrichosis |
ORPHA:573278 |
Pontocerebellar Hypoplasia Type 7 |
|
Macrotia |
ORPHA:284339 |
Hydrolethalus Syndrome 1 |
|
Microphthalmia, Abnormal pinna morphology, Low-set ears |
OMIM:236680 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Abnormality of alkaline phosphatase level |
OMIM:300106 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Developmental cataract |
ORPHA:93325 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma |
OMIM:615287 |
Mowat-Wilson Syndrome |
|
Cataract, Posteriorly rotated ears, Uplifted earlobe, Sensorineural hearing impairment, Astigmati... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cataract, Posteriorly rotated ears, Uplifted earlobe, Sensorineural hearing impairment, Astigmati... |
ORPHA:261537 |
Juvenile Nephropathic Cystinosis |
|
Elevated alkaline phosphatase of bone origin |
ORPHA:411634 |
Pmm2-Cdg |
|
Macrotia, Cataract, Abnormal pinna morphology, Abnormal subcutaneous fat tissue distribution |
ORPHA:79318 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Elevated alkaline phosphatase of bone origin |
ORPHA:289176 |
Holoprosencephaly 2 |
|
Microphthalmia, Iris coloboma |
OMIM:157170 |
Holoprosencephaly 1 |
|
Microphthalmia |
OMIM:236100 |
Alström Syndrome |
|
Abnormal vestibular function, Cataract, Dorsocervical fat pad, Frontal balding, Posterior subcaps... |
ORPHA:64 |
Generalized Arterial Calcification Of Infancy |
|
Elevated alkaline phosphatase of bone origin, Pancreatic calcification |
ORPHA:51608 |