Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Epidermal acanthosis, Absent facia... |
ORPHA:90368 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Macular dystrophy, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Facial erythema, Hyperker... |
OMIM:212360 |
Erythrokeratodermia Variabilis |
|
Alopecia, Skin rash, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Dry ... |
ORPHA:317 |
Dissecting Cellulitis Of The Scalp |
|
Recurrent skin infections, Edema, Abnormal hair morphology, Pruritus, Cellulitis |
ORPHA:345 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair |
ORPHA:505 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Bathing Suit Ichthyosis |
|
Alopecia, Parakeratosis, Epidermal acanthosis, Multiple joint contractures, Thickened skin, Palmo... |
ORPHA:100976 |
Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Edema, Pruritus, Splenomegaly, Erythema, Skin ulcer, Hyperkeratosis,... |
ORPHA:2584 |
Bazex Syndrome |
|
Parakeratosis, Edema, Yellow nails, Pruritus, Anemia, Hyperkeratosis, Palmoplantar keratoderma, N... |
ORPHA:166113 |
Ulerythema Ophryogenesis |
|
Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, Contact dermat... |
ORPHA:3406 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Gen... |
ORPHA:2890 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi... |
ORPHA:89838 |
Anonychia With Flexural Pigmentation |
|
Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia |
ORPHA:69125 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera... |
ORPHA:2722 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:2297 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Dry skin, Absent pubic hair, C... |
ORPHA:2269 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Perifolliculitis, Alopecia of scalp |
OMIM:260910 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Eczema, Aggressive behavior, Dry skin, Compulsive ... |
OMIM:261600 |
Ichthyosis With Confetti |
|
Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Hypoplastic nipples, Erythroderm... |
OMIM:609165 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratos... |
ORPHA:79503 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Scarring, Aggressive behavior, Thickened skin, Hyperkeratosis, Patchy alopecia, Reduced epidermal... |
OMIM:247100 |
Kerion Celsi |
|
Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ... |
ORPHA:499 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Concave nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, ... |
ORPHA:530838 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Peeling Skin Syndrome 3 |
|
Abnormal hair morphology, Erythema, White scaling skin, Pruritus |
OMIM:616265 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Generalized hirsutism, Thickened skin |
ORPHA:2812 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... |
OMIM:224750 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Recurrent pne... |
OMIM:618282 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Parakeratosis, Epidermal acanthosis, Scaling skin on fingertip, Hypergranulosis, Palmop... |
ORPHA:79395 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Alopecia, Lipoatrophy,... |
ORPHA:90156 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Failure to thrive, Eczema, Microcytic anemia, Cutis laxa, Hyperkeratosis, Ichthyosis, Dysphagia, ... |
OMIM:612379 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Congenital b... |
OMIM:607602 |
Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Abnormal fingern... |
ORPHA:79147 |
Netherton Syndrome |
|
Hypernatremic dehydration, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infecti... |
OMIM:256500 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,... |
ORPHA:90158 |
Candidiasis, Familial, 1 |
|
Alopecia, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Omenn Syndrome |
|
Alopecia, Failure to thrive, Pneumonia, Edema, Eosinophilia, Pruritus, Thickened skin, Leukocytos... |
ORPHA:39041 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Facial erythema, Follicu... |
OMIM:308800 |
Lamellar Ichthyosis |
|
Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Ichthyosis, Abnormality of the na... |
ORPHA:313 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Atrophic scars, Nail dystrophy |
OMIM:131850 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa... |
OMIM:617294 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Palmoplantar keratoderm... |
OMIM:618535 |
L-Ferritin Deficiency |
|
Decreased circulating ferritin concentration, Restless legs, Alopecia |
OMIM:615604 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Lipoatrophy, Cryptorchidism, Dry skin, Low posterior hairline, Premature ... |
ORPHA:2617 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Dry skin, Sparse hair |
OMIM:617073 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Eosinophilia, Pruritus, Onycholysis, Scaling skin, Nail dystrophy, Erythroderma |
OMIM:270300 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy |
OMIM:616487 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scaling skin, Spar... |
OMIM:604536 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno... |
ORPHA:248 |
Incontinentia Pigmenti |
|
Ridged nail, Uveitis, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alopecia, Alopecia, Macu... |
OMIM:308300 |
Kid Syndrome |
|
Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Recurrent cutaneous fungal ... |
ORPHA:477 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Failure to thrive, Increased ci... |
OMIM:610768 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Scarring, Abnormal hair morphology, Scarring alopecia of scalp, Pustul... |
ORPHA:346 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Acrokeratosis Verruciformis |
|
Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkera... |
OMIM:101900 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Small for gestational age, Flexion contracture, Absence of subcutane... |
OMIM:601675 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat... |
OMIM:616295 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... |
ORPHA:454 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Chronic oral candidiasis, Hemolytic anemia, Psoriasiform dermatitis, Failure to thrive in infancy... |
OMIM:606367 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Epidermal acanthosis, Flexion contracture, Palmoplantar hyperkeratosis, ... |
OMIM:242300 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormal retinal morphology, Abnormali... |
ORPHA:170 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Ich... |
OMIM:607936 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Epidermal acanthosis, Sparse eyebrow, Prur... |
OMIM:607626 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Sézary Syndrome |
|
Alopecia, Edema, Pruritus, Splenomegaly, Palmoplantar keratoderma, Nail dystrophy, Erythroderma, ... |
ORPHA:3162 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Pruritus, Hypohidrosis, Erythroderma, Failure to thrive, Abnormality of the nail |
ORPHA:79394 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis |
ORPHA:464318 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Abnormal hair morphology, Pruritus, Paronychia, S... |
ORPHA:2314 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis |
ORPHA:79399 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Scarring, Pruritus, Hyperkeratosis, Atrophic scars, Nail dystrophy, Abnormal toenail morphology |
ORPHA:89843 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont... |
ORPHA:35173 |
Coffin-Siris Syndrome 8 |
|
Sparse scalp hair, Hyperactivity, Inguinal hernia, Eczema, Aggressive behavior, Cryptorchidism, S... |
OMIM:618362 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Hypothyroidism, Fine hair, Hypohidrosis, Dystrophic ... |
ORPHA:1882 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Pal... |
OMIM:605676 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Alopecia, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decreased ... |
ORPHA:169154 |
Incontinentia Pigmenti |
|
Uveitis, Abnormal toenail morphology, Infectious encephalitis, Abnormality of the nail, Alopecia,... |
ORPHA:464 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Viral hepatitis, Decreased circulating hepcidin concentratio... |
ORPHA:101330 |
Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia, Cachexia |
ORPHA:2574 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Camptodactyly of finger, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, O... |
ORPHA:2251 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Abnormal hair morphology,... |
ORPHA:634 |
Olmsted Syndrome 2 |
|
Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h... |
OMIM:619208 |
Dermoodontodysplasia |
|
Dry skin, Nail dysplasia, Trichodysplasia |
OMIM:125640 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Prolidase Deficiency |
|
Abnormal fingernail morphology, Pruritus, Splenomegaly, Erythema, Low anterior hairline, Crusting... |
ORPHA:742 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Failure to thrive, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis no... |
ORPHA:238468 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker... |
ORPHA:79397 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Recurrent otitis media, Nail dystrop... |
OMIM:618625 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Honeycomb palmoplantar hyperkeratosis, Self-injurious behavior, Hyperkeratosis, Ichthyo... |
ORPHA:494 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
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 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... |
OMIM:617237 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin |
OMIM:146590 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Brittle hair, Small for gestational age, Slow-growing hair, Ichthyosis, Tiger tail banding, Dry skin |
OMIM:616943 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers... |
ORPHA:1008 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Long ... |
OMIM:275400 |
Leopard Syndrome 3 |
|
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Dry skin |
OMIM:613707 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenails, Fine hai... |
ORPHA:1028 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Inguinal hernia, Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform eryt... |
OMIM:614457 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia, Erysipelas |
OMIM:615704 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Erythema, Follicular hyperkeratosis, Sp... |
OMIM:607903 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Flexion contracture of finger, Sparse eyelashes, ... |
ORPHA:1010 |
Ichthyosis Vulgaris |
|
Eczematoid dermatitis, Absent keratohyalin granules, Dry skin, Ichthyosis |
OMIM:146700 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Flexion contracture, Scaling skin, Dry skin, Thrombocytopenia |
OMIM:612952 |
Dermoodontodysplasia |
|
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Dry skin, Toenail dysplasia, Sparse bod... |
ORPHA:1660 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, Attention deficit hyperactivity disorder, High ... |
OMIM:617364 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Scarring, Pruritus, Recurrent pneumonia, Cheilitis, Palmo... |
ORPHA:158668 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Elbow hypertrichosis, Eczema, Aggressive behavior, Pica, Obesity, Long eyelashes, Dry skin |
OMIM:620191 |
Erosive Pustular Dermatosis Of The Scalp |
|
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Pustule |
ORPHA:222 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Alopecia of scalp |
OMIM:136300 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Dystrophic fingernails, Thin nail, Sparse eye... |
OMIM:257980 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Facial erythem... |
OMIM:612843 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Bilateral cryptorchid... |
OMIM:618156 |
Atrophoderma Vermiculata |
|
Pruritus, Abnormal epidermal morphology, Erythema, Atrophic scars, Follicular hyperkeratosis, Hyp... |
ORPHA:79100 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Aggressive behavior, Abnormal hair whorl, Synophrys, Increased body weight, Low posterior hairlin... |
OMIM:300860 |
Roifman Syndrome |
|
Hip contracture, Eczema, Hyperconvex nail, Eosinophilia, Recurrent pneumonia, Prominent eyelashes... |
ORPHA:353298 |
Hatipoglu Immunodeficiency Syndrome |
|
Failure to thrive, Fair hair, Inguinal hernia, Eczema, Pancytopenia, Cryptorchidism, Thickened sk... |
OMIM:620331 |
Congenital Disorder Of Glycosylation, Type If |
|
Flexion contracture, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive |
OMIM:609180 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Erythema, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory a... |
ORPHA:816 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Acne, Obesity, Hirsutism |
OMIM:604931 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia... |
OMIM:304790 |
Dermatitis, Atopic |
|
Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic dermatitis, Facial erythem... |
OMIM:603165 |
Aquagenic Palmoplantar Keratoderma |
|
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... |
ORPHA:498359 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Multinodular goiter, Dry skin, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, ... |
OMIM:618373 |
Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Patchy alopecia, Chron... |
OMIM:615387 |
Roifman Syndrome |
|
Hip contracture, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Prominent eyelashes, Re... |
OMIM:616651 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Gene... |
OMIM:612281 |
Lipoid Proteinosis |
|
Acne, Scarring, Pustule, Thickened skin, Hyperkeratosis, Dysphagia, Alopecia of scalp |
ORPHA:530 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Crypt... |
ORPHA:3363 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerato... |
OMIM:158310 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, ... |
ORPHA:3051 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Epidermal acanthosis, Scaling skin |
OMIM:617115 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:617574 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Lupus Erythematosus Tumidus |
|
Scarring, Deep dermal perivascular inflammatory infiltrate, Scaling skin |
ORPHA:90283 |
Omenn Syndrome |
|
Alopecia, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Thickened skin, Splenomegaly, Thromb... |
OMIM:603554 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Thrombocyto... |
ORPHA:47 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Failure to thrive, Anorexia, Pustule, Paronyc... |
ORPHA:37 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy... |
OMIM:615821 |
Bjornstad Syndrome |
|
Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular int... |
OMIM:262000 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Pruritus, Weight loss, Hyperhidrosis |
ORPHA:86893 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis, Onycho... |
ORPHA:525 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic... |
OMIM:618131 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Obesity, Acanthosis nigricans, Polyphagia, Childh... |
ORPHA:71529 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Dry skin, Sparse body hair, Ichthyosis |
ORPHA:177 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
Distal Duplication 6P |
|
Abnormal hair quantity, Abnormal eyelash morphology, Fine hair, Hernia, Dry skin |
ORPHA:1745 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... |
ORPHA:87503 |
Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Onycholysis, Reduced uroporphyrinogen decarboxylase activity |
OMIM:176100 |
Acral Peeling Skin Syndrome |
|
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Dry skin, Fine hair, P... |
OMIM:129400 |
Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Polyhydramnios, Large for gestational age, A... |
OMIM:619075 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Flexion contracture of finger, Interphalangeal joint contracture of fin... |
ORPHA:69087 |
Radio-Tartaglia Syndrome |
|
Thick eyebrow, Striae distensae, Highly arched eyebrow, Long eyebrows, Aggressive behavior, Impul... |
OMIM:619312 |
Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital bullous... |
OMIM:113800 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Overweight, Cryptorchidism, Follicular hyperkeratosis, Dry skin, Mil... |
ORPHA:486815 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:615028 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morphology, H... |
ORPHA:2325 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, H... |
OMIM:242100 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Acantholysis, Pruritus,... |
ORPHA:293173 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Autoimmune hemolytic anemia, Epidermal acanthosis, Elevated circulating C-reac... |
OMIM:617388 |
Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis, Interphalangeal joint contracture of finger, Abnormal fingernail morphology... |
ORPHA:2199 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Posterior blepha... |
OMIM:300918 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Hyperkeratosis, Attention deficit hyperactivity disorder, Ichthyosis, Dry skin |
ORPHA:461 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Eosinophilia, Erythema, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eczema... |
OMIM:147060 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Hypopigmentation of hair, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis, Allergic rhinitis, Polyhydramnios, Pruritus, Generalized ichthyosis, Follic... |
OMIM:608649 |
Ramon Syndrome |
|
Abnormal dental enamel morphology, Hyperkeratosis, Failure to thrive, Generalized hirsutism |
ORPHA:3019 |
Basan Syndrome |
|
Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy, Flexion contracture of digit |
OMIM:129200 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Alopecia totalis, Lack of skin elasticity, Atypical scarring of skin, Palmoplantar keratoderma, N... |
ORPHA:1366 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Small for gestational age, Hirsutism |
ORPHA:85288 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hyperkerat... |
OMIM:602400 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Du... |
ORPHA:39812 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... |
OMIM:129500 |
Noonan Syndrome 8 |
|
Curly hair, Eczema, Polyhydramnios, Large for gestational age, Cryptorchidism, Patent ductus arte... |
OMIM:615355 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderm... |
OMIM:613576 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Pyod... |
ORPHA:486 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Pruritus, Thickened skin, Angioedema, Erythema, Scaling skin, Peau d'orange |
ORPHA:79455 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Isaacs Syndrome |
|
Weight loss, Hyperhidrosis |
ORPHA:84142 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Flexion contracture, Ichthyosis, Sparse body hair, Aplasia/Hypoplasi... |
ORPHA:2850 |
14Q11.2 Microduplication Syndrome |
|
Highly arched eyebrow, Aggressive behavior, Obesity, Attention deficit hyperactivity disorder, Ac... |
ORPHA:261229 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Adrenal hyperplasia, Acne, Dorsocervical fat pad, Increased body weight, Increased circ... |
OMIM:615830 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Decreased body weight, Sparse hair, F... |
ORPHA:2985 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Failure to thrive, Anemia |
ORPHA:337 |
Psoriasis 2 |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin |
OMIM:602723 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Edema, Lymphedema, Abnormal eyelash morphology, Abnormal hair morphology, Thickened... |
ORPHA:2526 |
Dowling-Degos Disease 4 |
|
Pruritus, Epidermal acanthosis, Hypergranulosis |
OMIM:615696 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Edema, Eosinophilia, Le... |
ORPHA:2070 |
Noonan Syndrome 13 |
|
Highly arched eyebrow, Aggressive behavior, Lymphedema, Cryptorchidism, Head-banging, Low posteri... |
OMIM:619087 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Flexion contracture, Elevated circulating phytanic acid concentration, Ichthyosis, Seve... |
OMIM:215100 |
Familial Melanoma |
|
Neoplasm of the pancreas, Dry skin, Abnormal hair morphology |
ORPHA:618 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Polyphagia, Obesity |
ORPHA:177910 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Highly arched eyebrow, Cryptorchidism, Synophrys, Paroxysmal bursts of laughter, P... |
ORPHA:228402 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Abnormal dental enamel morphology, Trichiasis, Atypical scarring of skin, Hyperke... |
OMIM:601701 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Weight loss, Pallor, Anemia |
ORPHA:517 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Atrichia, Scaling skin, Periungual erythema, Dystrophic fingernails, Abs... |
OMIM:308205 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Alopecia, Autoimmune thrombocytopenia, Thrombocytopenia, Leukopenia, Optic neuritis,... |
OMIM:301080 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dyst... |
OMIM:617337 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Thin eyebrow, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Edema, Increa... |
ORPHA:36234 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Abnormal testis morphology, Sparse body hair, Apla... |
ORPHA:202 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilia, Keratitis, Bronchiectasis, Recurrent otitis media, Joint contracture of the... |
OMIM:618523 |
Adiposis Dolorosa |
|
Recurrent skin infections, Sparse axillary hair, Sparse pubic hair, Xerostomia, Obesity, Arthriti... |
ORPHA:36397 |
Recon Progeroid Syndrome |
|
Thrombocytopenia, Hyperconvex thumb nails, Absent lower eyelashes, Anemia, Keratoconjunctivitis s... |
OMIM:620370 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
Eosinophilic Fasciitis |
|
Fasciitis, Myositis, Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss, Arthritis,... |
ORPHA:3165 |
Obesity And Hypopigmentation |
|
Red hair, Polyphagia, Obesity |
OMIM:620195 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Decreased serum iron, Hypereo... |
OMIM:212050 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concent... |
OMIM:242150 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Chronic myelomon... |
ORPHA:90280 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Costello Syndrome |
|
Deep-set nails, Failure to thrive in infancy, Redundant skin, Abnormal dental enamel morphology, ... |
ORPHA:3071 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Noonan Syndrome 5 |
|
Curly hair, Polyhydramnios, Large for gestational age, Sparse eyebrow, Cryptorchidism, Fine hair,... |
OMIM:611553 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe... |
OMIM:137940 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Abnormality of ... |
ORPHA:129 |
Huriez Syndrome |
|
Lack of skin elasticity, Palmoplantar keratoderma, Small nail, Dry skin, Abnormality of the nail,... |
ORPHA:384 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Dysphagia, Enamel... |
OMIM:616029 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Joint contracture, Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Onychauxis, Acanthosis nigricans, Dry skin, Hypertrichosis |
OMIM:262190 |
Wells Syndrome |
|
Eosinophilia, Edema, Pruritus, Cellulitis, Skin vesicle |
ORPHA:901 |
Generalized Eruptive Histiocytosis |
|
Maculopapular exanthema, Pruritus, Hypereosinophilia, Leukemia, Histiocytosis |
ORPHA:157991 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Redundant skin, Failure to thrive in infancy, Lymphedema, Abnorm... |
ORPHA:1340 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti |
ORPHA:1573 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Atopic dermatitis, Nail pits, ... |
ORPHA:79153 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Scali... |
ORPHA:454831 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Darier Disease |
|
Acrokeratosis, Abnormal hair morphology, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin... |
ORPHA:218 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Scleroderma, Inflammatory abnormality of the skin |
ORPHA:140933 |
Amyloidosis, Primary Localized Cutaneous, 3 |
|
Pruritus, Dry skin |
OMIM:617920 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Bilateral cryptorchidism, Erythroderma, Agitation, Ichthyosis |
OMIM:618840 |
Pachyonychia Congenita |
|
Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp... |
ORPHA:2309 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... |
ORPHA:2457 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati... |
ORPHA:79481 |
Complex Regional Pain Syndrome |
|
Abnormality of hair growth, Edema of the upper limbs, Slow-growing nails, Erythema, Pedal edema, ... |
ORPHA:83452 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Atrophic gastritis, Recurrent skin infections, Autoimmune hemolytic anemia, Recurrent p... |
OMIM:616576 |
Proteus Syndrome |
|
Epidermal acanthosis, Splenomegaly, Hyperkeratosis, Multiple lipomas, Lipoma |
OMIM:176920 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Dry skin, Acanthosis nigricans, Polycystic ovaries |
OMIM:268020 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic ... |
OMIM:148700 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pustule, Pruritus, Ulcerative ... |
ORPHA:555905 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosinophi... |
OMIM:617638 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Failure to thrive in infancy, Thrombocytopenia, Tongue thrusting, Anemia, Self-inj... |
ORPHA:261323 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Elevated circulating C... |
OMIM:614204 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Sparse or absent ey... |
ORPHA:217346 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Angular cheiliti... |
OMIM:613102 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Failure to thrive, Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly... |
OMIM:614576 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Inguinal hernia, Sparse eyelashes, Sparse... |
OMIM:613026 |
Atelis Syndrome 1 |
|
Eczema, Thrombocytopenia, Bronchiectasis, Leukopenia, Attention deficit hyperactivity disorder, D... |
OMIM:620184 |
Trichothiodystrophy |
|
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Multiple joint contractures, Conj... |
ORPHA:33364 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Epidermal acanthosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbull... |
OMIM:604777 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Camptodactyly of finger, Hyperkeratosis, Coarse hair, Joint contracture of the 5th ... |
ORPHA:1883 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Plantar hyperkeratosis, Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Enamel hypoplas... |
OMIM:226650 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cryptorchidism, Obesity, Polycystic ovaries, Acanthosis nigricans, Keloids, Dry skin, Decreased t... |
ORPHA:3085 |
Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Cachexia, Anorexia, Hypoplastic toenails, Lymphedema, S... |
ORPHA:2930 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
Juvenile Dermatomyositis |
|
Calcinosis, Alopecia, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase con... |
ORPHA:93672 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Leopard Syndrome 2 |
|
Curly hair, Dry skin |
OMIM:611554 |
Man1B1-Cdg |
|
Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Cutis laxa, Truncal obesity, Long... |
ORPHA:397941 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Aggressive behavior, Cryptorchidism, Low anterior hairline, Hirsutism, Woo... |
OMIM:619244 |
Hypereosinophilic Syndrome, Idiopathic |
|
Pruritus, Splenomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Anorexia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepa... |
ORPHA:169160 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin, Ichthyosis |
ORPHA:2271 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Pancreatic steatosis, Hernia, Neutropenia, Sparse hair, Amelogenesis imperfecta,... |
OMIM:617052 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Cryptorchidism, Flexion contracture, Obesity, Skin-pic... |
OMIM:615547 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou... |
OMIM:617526 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Accessory spleen, Small for gestational age, Elevated circulating luteinizing hormon... |
OMIM:618419 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Sparse eyebrow, Dry skin, Onychogryposis of toenails |
OMIM:600906 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Alopecia, Flexion contracture |
OMIM:203550 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Eczema, Anorexia, Hyperammonemia, Keratoconjunctivitis, Weight loss, Thrombocytopenia, ... |
ORPHA:79242 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Lymphopenia, Eosinophilia, Thickened skin |
ORPHA:2582 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Alazami-Yuan Syndrome |
|
Thick eyebrow, Hyperactivity, Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hair... |
OMIM:617126 |
Anonychia With Flexural Pigmentation |
|
Anonychia, Dry skin |
OMIM:106750 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Dry skin, Hypoalbuminemia, Ichthyosis, Failure to thrive |
ORPHA:1954 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... |
OMIM:601952 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Elevated circulating creatine kinase concentration, Edema, Spa... |
OMIM:604173 |
Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... |
OMIM:613953 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Abnormal fingernail morphology, Pruritus, Gastrointestinal inflammation, Atypical scarring of ski... |
ORPHA:79410 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Failure to thrive, Hypertriglyce... |
OMIM:606721 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle |
ORPHA:158681 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... |
ORPHA:443811 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration ... |
OMIM:615508 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Striae distensae, Acne, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Increased body weight, Dry skin, Anemia |
OMIM:614450 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Xerostomia,... |
OMIM:614941 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Inguinal hernia, Small for gestational age, Eczema, Highly arched eyebrow, Cryptor... |
ORPHA:352490 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Epidermal acanthosis, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
6Q16 Microdeletion Syndrome |
|
Abnormal temper tantrums, Polyphagia, Obesity, Thick eyebrow |
ORPHA:171829 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia, Ichthyosis |
ORPHA:88621 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Enlarged ovaries, Thick hair, Onychauxis, Low anterior hairl... |
ORPHA:769 |
Diffuse Cutaneous Mastocytosis |
|
Pruritus, Thickened skin, Abnormality of the spleen, Scaling skin, Lymphocytosis, Erythroderma, P... |
ORPHA:79456 |
Alpha-Heavy Chain Disease |
|
Alopecia, Splenomegaly, Hypocalcemia, Ascites, Anemia |
ORPHA:100025 |
Werner Syndrome |
|
Sparse scalp hair, Lipodystrophy, Lipoatrophy, Abnormal hair whorl, Lack of skin elasticity, Skin... |
ORPHA:902 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato... |
OMIM:617525 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Elb... |
OMIM:148210 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Polyhydramnios, Cryptor... |
ORPHA:1812 |
Donohue Syndrome |
|
Adipose tissue loss, Acanthosis nigricans, Hyperkeratosis, Ovarian cyst, Nail dysplasia, Severe f... |
OMIM:246200 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Dry skin, Nail pits, C... |
OMIM:103285 |
Diencephalic Syndrome |
|
Decreased body weight, Cachexia, Hyperhidrosis |
ORPHA:1672 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Hypertriglyceridemia, Reduced intraabdominal ... |
ORPHA:363400 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Normoc... |
ORPHA:199299 |
Koolen-De Vries Syndrome |
|
Failure to thrive, Hyperactivity, Small for gestational age, Eczema, Impulsivity, Abnormality of ... |
OMIM:610443 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphedema, Leuko... |
OMIM:607115 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Alopecia, Autoimmune hemolytic ... |
OMIM:615559 |
Central Precocious Puberty In Male |
|
Acne, Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Abnormality of... |
ORPHA:649929 |
9P13 Microdeletion Syndrome |
|
Hyperconvex nail, Highly arched eyebrow, Hypoplastic toenails, Attention deficit hyperactivity di... |
ORPHA:324313 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Hypertriglyceridemia, Lipodystrop... |
ORPHA:168569 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Fetal ascites, Synophrys, Flexion contract... |
OMIM:619503 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of hair texture, Cryptor... |
ORPHA:96169 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Alopecia of scalp, B l... |
OMIM:602450 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor... |
ORPHA:294023 |
Graves Disease, Susceptibility To, 1 |
|
Increased circulating free T4 concentration, Increased circulating free T3, Weight loss, Hyperhid... |
OMIM:275000 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Hyperkeratosis, Alopecia, Fine hair |
ORPHA:1839 |
Eec Syndrome |
|
Slow-growing hair, Decreased response to growth hormone stimulation test, Abnormal dental enamel ... |
ORPHA:1896 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Pustule, Myocarditis, Angioedema, Erythema, Hepatitis, Thyroiditis, Weig... |
ORPHA:139402 |
Cebalid Syndrome |
|
Thick eyebrow, Congenital diaphragmatic hernia, Polyphagia, Highly arched eyebrow |
OMIM:618774 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Curly hair, Failure to thrive |
OMIM:615279 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Recurrent pneumonia, Decreased ... |
OMIM:243700 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Pruritus, Dry skin, Scaling skin |
OMIM:105250 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Perianal erythema, Splenomegaly, Paronychia, Alopecia of scalp, Decreased seru... |
OMIM:201100 |
Den Hoed-De Boer-Voisin Syndrome |
|
Overweight, Widow's peak, Obesity, Stereotypical hand wringing, Dysphagia, Oligohydramnios, Agita... |
OMIM:619229 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke... |
ORPHA:79151 |
Mpdu1-Cdg |
|
Eczema, Decreased response to growth hormone stimulation test, Elevated circulating creatine kina... |
ORPHA:79323 |
Luscan-Lumish Syndrome |
|
Aggressive behavior, Obesity, Polycystic ovaries, Recurrent otitis media, High anterior hairline,... |
OMIM:616831 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Nail pits, Hypoplastic nipples... |
ORPHA:978 |
X-Linked Intellectual Disability, Nascimento Type |
|
Lumbar hypertrichosis, Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia, Aggres... |
ORPHA:163956 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplan... |
ORPHA:312 |
Ddost-Cdg |
|
Failure to thrive, Dry skin, Lipodystrophy |
ORPHA:300536 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Alopecia, Limb joint contracture, Small pituitary gland |
OMIM:612079 |
Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Erythema,... |
ORPHA:90160 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Hyperactivity, Inguinal hernia, Eczema, Polyhydramnios, Large for ... |
OMIM:607721 |
Dermatomyositis |
|
Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Edema, Pruritus, Myocarditi... |
ORPHA:221 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... |
OMIM:608612 |
Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Eczema |
ORPHA:2101 |
Cushing Disease |
|
Sparse scalp hair, Striae distensae, Adrenal hyperplasia, Acne, Paradoxical increased cortisol se... |
ORPHA:96253 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increas... |
OMIM:603909 |
Immunodeficiency 32B |
|
Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... |
OMIM:226990 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Psoria... |
OMIM:614700 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Hypohidrosis, Sparse hair, Failure to thrive |
ORPHA:2316 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Palmoplantar kera... |
ORPHA:659 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Sparse axillary hair, Reduced circulating pro... |
ORPHA:91355 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Pancytopenia, Aplastic anemia, Cryptorchidism, Fine hair, Premature graying of hair, Le... |
OMIM:613990 |
Agel Amyloidosis |
|
Edema, Pruritus, Xerostomia, Cutis laxa, Keratoconjunctivitis sicca, Blepharochalasis, Abnormal s... |
ORPHA:85448 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Small for gestational age, Eczema, Thin nail, Aggressive behavior, Neutropenia, Bruxism, Sparse h... |
OMIM:617799 |
Lymphatic Malformation 4 |
|
Lymphedema, Pedal edema, Hydrocele testis, Hyperkeratosis, Cellulitis, Toenail dysplasia |
OMIM:615907 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... |
ORPHA:911 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Epidermal acanthosis, Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Long eyelashes, ... |
OMIM:616069 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Myocarditis, Endoc... |
ORPHA:183 |
Restrictive Dermopathy |
|
Multiple joint contractures, Short nail, Camptodactyly of finger, Epidermal hyperkeratosis, Spars... |
ORPHA:1662 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Sparse scalp hair, Hypophosphatemia |
ORPHA:2611 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect... |
ORPHA:678 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, Absent eyela... |
OMIM:305100 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Failure to thrive, Salt cr... |
ORPHA:95409 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Polyphagia, Obesity, Aggressive behavior |
ORPHA:329249 |
Noonan Syndrome 14 |
|
Curly hair, Lymphopenia, Polyhydramnios, Sparse eyebrow, Cryptorchidism, Low posterior hairline, ... |
OMIM:619745 |
Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczem... |
OMIM:615816 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery... |
ORPHA:64745 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Syndromic Diarrhea |
|
Lymphopenia, Hypopigmentation of hair, Brittle hair, Gastritis, Small for gestational age, Inguin... |
ORPHA:84064 |
Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash |
ORPHA:163525 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Failure to thrive in infancy, Recurrent pneumonia, Bronchiectasis, Corneal scarring, Hyperkeratos... |
OMIM:301220 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia... |
ORPHA:331206 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating cholesterol con... |
ORPHA:399 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Patent ductus arteriosus, Fine hair, Anemia, Truncal obesity, Attention deficit hyperactivity dis... |
ORPHA:2637 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,... |
ORPHA:37042 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Recurrent skin infections, Scarring, Erythema, Anemia, Atrophic scars, Palmoplantar ker... |
ORPHA:79396 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Failure to thrive, Sparse eyelashes, Lipoatrophy, Sparse eyebrow, Fl... |
OMIM:614008 |
Acral Self-Healing Collodion Baby |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... |
ORPHA:281127 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans... |
OMIM:618527 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Recurrent skin infections, Decreased serum iron, Overweight, Repetitive compulsive behavior, Flex... |
ORPHA:391372 |
Macs Syndrome |
|
Alopecia, Palpebral edema, Redundant skin, Sparse eyebrow, Cryptorchidism, Bronchiectasis, Cutis ... |
OMIM:613075 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Large for gestational age, Decreased circulating free fatty acid level... |
ORPHA:324575 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis |
ORPHA:26137 |
Classic Hodgkin Lymphoma |
|
Pruritus, Weight loss, Skin rash, Hyperhidrosis |
ORPHA:391 |
Ataxia-Photosensitivity-Short Stature Syndrome |
|
Dry skin |
ORPHA:1184 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Keratoconjunctivitis sicca... |
ORPHA:1806 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Umbilical hernia, Dry skin, Obesity |
ORPHA:1035 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Sparse scalp hair, Alopecia, Loss of subcutaneous adipose tissue in limbs, Lipodystro... |
OMIM:248370 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Inguinal hernia, Highly arched eyebrow, Large for gestational age, Palmoplantar hyperkeratosis, F... |
OMIM:280000 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Synophrys, Palmoplantar hyper... |
ORPHA:3253 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Acute pancreatitis, Hypertriglyceridemia, Lipodystrophy, Red... |
OMIM:608594 |
Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin |
OMIM:275120 |
Hypotonia-Cystinuria Syndrome |
|
Decreased response to growth hormone stimulation test, Long eyelashes, Hypocalcemia, Failure to t... |
OMIM:606407 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Abnormal dental enamel morphology, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal to... |
ORPHA:1005 |
Flynn-Aird Syndrome |
|
Cachexia, Alopecia, Skin ulcer |
ORPHA:2047 |
Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Flexion contracture, Camptodactyly |
ORPHA:88630 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Cachexia, Thin eyebrow, Decreased testicular size |
ORPHA:3242 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Macrocytic anemia, Eczema, Thyroiditis, Weight loss, Iron deficiency anemia, Recurrent ... |
OMIM:212750 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Pruritus, Splenomegaly, Le... |
ORPHA:98849 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Myositis, Flexion contracture, Elevated circulating creatine kinase concentration |
OMIM:253600 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Eczema, Synophrys,... |
OMIM:611091 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Decreased circulating free fatty acid level, Agitation, Pallor, Polyph... |
ORPHA:276556 |
Bone Marrow Failure Syndrome 4 |
|
Eczema, Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Dry skin, Anemia |
OMIM:618116 |
Jung Syndrome |
|
Dry skin, Low posterior hairline |
ORPHA:2321 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair |
OMIM:614940 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Atrophic scars, Hernia, Elevated circulating creatine kinase concentration, Follicular hyperkerat... |
ORPHA:300179 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Inguinal hernia, Polyhydramnios, L... |
ORPHA:544488 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Erythema,... |
ORPHA:90159 |
Addison Disease |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Primary testicular failur... |
ORPHA:85138 |
Short Syndrome |
|
Alopecia, Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss, Excessi... |
ORPHA:3163 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Acute pancreatitis, Hypertriglyceridemia, Lipodystrophy, Ele... |
OMIM:269700 |
Naxos Disease |
|
Curly hair, Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse... |
OMIM:601214 |
Xeroderma Pigmentosum |
|
Alopecia, Failure to thrive, Keratitis, Cryptorchidism, Thickened skin, Erythema, Hyperkeratosis,... |
ORPHA:910 |
Barber-Say Syndrome |
|
Dermal translucency, Absent nipple, Sparse eyelashes, Redundant skin, Lipodystrophy, Sparse eyebr... |
OMIM:209885 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Decreased circulating free fatty acid level, Agitation, Pallor, Polyph... |
ORPHA:276575 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Sparse scalp hair, Abnormal fingernail morphology, Eczema, Abnormality of neu... |
ORPHA:235 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Colitis, Pallor, Neutrophilia, Angioedema, Leukocytosis, Chronic hepatitis, Hepatosp... |
ORPHA:3260 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Eczema, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia... |
ORPHA:428 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Low anterior hairline, Horizontal eyebrow, High anterior hairline, Dry skin, Thick eyebrow |
OMIM:618797 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Abnormal dental enamel morphology, Abnormal fingernail morphology, Pruritus, Erythema,... |
ORPHA:1334 |
Hypomelanosis Of Ito |
|
Alopecia |
OMIM:300337 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Plantar hyperkeratosis, Porokeratosis, Sparse eyelashes, Alopecia totalis, Skin rash,... |
ORPHA:2909 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus, Comedonal acne, Decreased retinol-binding protein level, Follicular hyp... |
OMIM:615147 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Abnormal hair morphology, Macroorchidism, Acne, Attention deficit hyperactivity disorder |
ORPHA:3000 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Palmar hyperkeratosis, Dry skin, Dystrophic f... |
OMIM:150400 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Hypereosinophilia, Atopic de... |
ORPHA:2902 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Bronchiectasis, Hepatitis, Neutrope... |
ORPHA:1163 |
Menkes Disease |
|
Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Cutis laxa, Sparse hair |
OMIM:309400 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Parakeratosis, Epidermal acanthosis, Elevated 8-dehydrocholesterol, Erythema, Elevated ... |
OMIM:308050 |
Dowling-Degos Disease |
|
Abnormal fingernail morphology, Pruritus, Hyperkeratosis, Arthritis, Skin vesicle, Hyperkeratotic... |
ORPHA:79145 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Porphyria Cutanea Tarda, Type I |
|
Eczema, Hypertrichosis |
OMIM:176090 |
Restrictive Dermopathy 1 |
|
Sparse eyelashes, Short nail, Limb joint contracture, Epidermal hyperkeratosis, Absent eyelashes,... |
OMIM:275210 |
Scalp-Ear-Nipple Syndrome |
|
Palpebral edema, Sparse axillary hair, Sparse pubic hair, Thickened skin, Fine hair, Pyelonephrit... |
OMIM:181270 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Vulvovaginal Gingival Syndrome |
|
Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema |
ORPHA:83453 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Alopecia, Myositis, Skin rash, Edema, Discoid lupus rash, Pericardial effusion, Arth... |
ORPHA:93552 |
Weaver Syndrome |
|
Deep-set nails, Inguinal hernia, Thin nail, Cryptorchidism, Patent ductus arteriosus, Cutis laxa,... |
OMIM:277590 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Anorexia, Xerostomia, Hypokalemia, Nail dystrophy, Hypocalcemia, Hypomagnesem... |
OMIM:175500 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Umbilical hernia, Dry skin |
OMIM:275100 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Cheilitis, Pallor, Failure to thrive,... |
ORPHA:90045 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Eczema, Lack of skin elasticity, Self-injurious behavior, Attention def... |
ORPHA:79254 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Dry skin, Umbilical hernia, Abnormal circulating thyroglobulin lev... |
ORPHA:95715 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Acute pancreatitis, Pericarditis, Failure to thrive, Chilblains, Edema, Pericar... |
OMIM:619487 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Erysipelas, Pedal edema, Hydrocele testis, Hyper... |
ORPHA:79452 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Failure to thrive, Alopecia, Brittle hair |
ORPHA:50812 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Myositis, Alopecia, Pericarditis, Skin rash, Gastritis, Myocarditis, Splenomega... |
ORPHA:809 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Thrombocytopenia |
OMIM:617443 |
Hajdu-Cheney Syndrome |
|
Failure to thrive, Inguinal hernia, Abnormal fingernail morphology, Thickened skin, Synophrys, Sp... |
ORPHA:955 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Generalized lipodystrophy, Nail d... |
ORPHA:90154 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Neonatal hyperbilirubinemia, Facial edema, Pituitary hypothyroidism, Abnormal ... |
ORPHA:90674 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Chronic mucocu... |
ORPHA:3453 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Increased resting energy expenditure |
ORPHA:369873 |
Kimura Disease |
|
Abnormal salivary gland morphology, Eosinophilia |
ORPHA:482 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality of the nail |
ORPHA:254478 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Pruritus, Jaundice, Weight loss, Cholelithiasis, Pancreatitis |
ORPHA:65682 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke... |
OMIM:615225 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema... |
ORPHA:69735 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Agitation, Pallor, Polyphagia, Increased C-peptide level |
ORPHA:276580 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Weight loss, ... |
ORPHA:2221 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Hyperactivity, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Cr... |
OMIM:234100 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia, Ichthyosis |
OMIM:242510 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Alopecia, Chronic active hepatitis, Hypertriglyceridemia... |
OMIM:203800 |
Systemic Sclerosis |
|
Alopecia, Pericarditis, Osteomyelitis, Glomerulonephritis, Recurrent skin infections, Elevated ci... |
ORPHA:90291 |
Sulfite Oxidase Deficiency, Isolated |
|
Agitation, Eczema, Elevated circulating creatine kinase concentration, Fine hair |
OMIM:272300 |
Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Eosinophilia, Esophagitis, Dysphagia |
OMIM:613412 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Eosinophilia, Esophagitis, Dysphagia |
OMIM:610247 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Pneumonia, Cryptorchidism, Atrichia, Nail dystrophy, ... |
ORPHA:1867 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis |
OMIM:609638 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Impulsivity, Cryptorchidism, Flexion contracture, Xerostomia, Increased... |
ORPHA:398069 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Abnormal dental enamel morphology, Hyperconvex fingernails, Skin vesicle, Hypoplastic f... |
ORPHA:257 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Eczema, Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:619691 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Impulsivity, Aggressive behavior, Fragile nails, Small nail, Recurrent otitis media, Pi... |
OMIM:261990 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... |
ORPHA:2897 |
Menkes Disease |
|
Hypopigmentation of hair, Osteomyelitis, Inguinal hernia, Thickened skin, Atypical scarring of sk... |
ORPHA:565 |
Fg Syndrome 3 |
|
Hyperactivity, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture |
OMIM:300406 |
Uv-Sensitive Syndrome 3 |
|
Dry skin |
OMIM:614640 |
Thyroid Dyshormonogenesis 1 |
|
Umbilical hernia, Dry skin, Goiter |
OMIM:274400 |
Uv-Sensitive Syndrome 1 |
|
Dry skin |
OMIM:600630 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Plantar hyperkeratosis, Porokeratosis, Small for gestational age, Alopecia totalis, A... |
ORPHA:221008 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Acantholysis, Absent eyelashes, Oligohydramnios, Absent toenail, Absent fingernai... |
ORPHA:158687 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Flexion contracture, Corneal scarring, Atrophic scars, Conjunctivitis, Nail dystrophy, ... |
OMIM:226600 |
Kury-Isidor Syndrome |
|
Recurrent otitis media, Alopecia, Attention deficit hyperactivity disorder, Hypertrichosis |
OMIM:619762 |
Tetrasomy 12P |
|
Sparse hair, Cachexia, Sparse eyebrow, Hypohidrosis |
ORPHA:884 |
Trisomy 18P |
|
Bilateral cryptorchidism, Attention deficit hyperactivity disorder, Polyphagia, Highly arched eye... |
ORPHA:1715 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Aplasia of the thymus, Pneumonia, S... |
OMIM:102700 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Redundant skin, Abnormal hair pattern, Camptodactyly of finger, Abse... |
ORPHA:920 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Hyperlipidemia, Flexion contracture, Lac... |
ORPHA:90153 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, Colonic eosinophilia... |
OMIM:618999 |
Leptin Deficiency Or Dysfunction |
|
Recurrent pneumonia, Polyphagia, Decreased testicular size, Obesity |
OMIM:614962 |
Angelman Syndrome |
|
Hyperactivity, Aggressive behavior, Tongue thrusting, Obesity, Self-injurious behavior, Inappropr... |
ORPHA:72 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Alopecia, Psoriasiform dermatitis, Decreased circulating cortisol level, Alopecia t... |
ORPHA:293978 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Anorexia, Increased... |
ORPHA:99889 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Erythroderma |
OMIM:610163 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Self-injurious behavior, Alopecia, Decreased response to growth hormone stimulatio... |
OMIM:601853 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Enamel hypoplasia, Sparse later... |
OMIM:614564 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss, Hyperkeratosis, Inflammation of th... |
ORPHA:29207 |
Noonan Syndrome 2 |
|
Curly hair, Polyhydramnios, Sparse eyebrow, Cryptorchidism, Increased nuchal translucency, Patent... |
OMIM:605275 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Umbilical hernia, Dry skin, Large for gestational age, Goiter |
ORPHA:226313 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Increased body weight, Leukopenia, Hypoalbuminemia, Acanthosis nigricans, Abnorma... |
ORPHA:2298 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Abscess, Eosinophilia, Pruritus, Erythema nodo... |
ORPHA:228123 |
Bazex-Dupre-Christol Syndrome |
|
Eczema, Trichorrhexis nodosa, Atopic dermatitis, Coarse hair, Sparse hair, Trichoepithelioma, Pil... |
OMIM:301845 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Predominantly lower limb lymphede... |
ORPHA:90186 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia |
OMIM:164180 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Enteroco... |
ORPHA:2686 |
Sarcoidosis |
|
Increased T cell count, Uveitis, Tubulointerstitial nephritis, Leukopenia, Hemolytic anemia, Alop... |
ORPHA:797 |
Wiedemann-Rautenstrauch Syndrome |
|
Flexion contracture, Hypoplasia of the thymus, Absent eyebrow, Alopecia, Absent eyelashes, Sparse... |
OMIM:264090 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia, Eczema |
OMIM:608118 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail, Oligohydramnios |
OMIM:614219 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Polyhydramnios, Absent eyelashes, Splenomegaly, To... |
OMIM:115150 |
Alg11-Cdg |
|
Failure to thrive, Dry skin, Abnormal adipose tissue morphology |
ORPHA:280071 |
Premature Aging Syndrome, Penttinen Type |
|
Flexion contracture of finger, Lipoatrophy, Thickened skin, Palmoplantar hyperkeratosis, Corneal ... |
OMIM:601812 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Acne, Hirsutism |
OMIM:612847 |
Fucosidosis |
|
Thick eyebrow, Splenomegaly, Flexion contracture, Vacuolated lymphocytes, Dry skin, Hernia, Failu... |
OMIM:230000 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Lymphopenia, Myositis, Failure to thrive, Skin rash, Elevated circ... |
OMIM:615934 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Flexion contracture, Skin ulcer, Arth... |
ORPHA:231 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Recurrent loss of toenails and fingernails, Crusting erythematous dermatitis, Erythema, Palmoplan... |
ORPHA:158673 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Small for gestational age, Decreased response to growth hormone stimula... |
ORPHA:98793 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Dry hair, Failure to thrive, Small for gestational age, Abno... |
OMIM:133540 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Sc... |
ORPHA:3464 |
Ane Syndrome |
|
Alopecia, Multiple joint contractures, Lipoatrophy, Anterior pituitary hypoplasia, Decreased resp... |
ORPHA:157954 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteomyelitis, Epidermal acanthosis, Skin rash, Elevated circulating C-reactive protein concentra... |
OMIM:612852 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Cryptorchidism, Xerostomia, Obesity, Abdominal obesity, Small pituitary... |
ORPHA:398079 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Alopecia, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclit... |
OMIM:240300 |
Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Eczema, Scarring, Keratitis, Erythema, M... |
ORPHA:330058 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hyperparathyroidism, Abnormal adipose tissue morphology, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Nonimmune hydro... |
OMIM:607823 |
Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Palmopl... |
OMIM:167210 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Small for gestational age, Decreased response to growth hormone stimula... |
ORPHA:177904 |
Harlequin Ichthyosis |
|
Dehydration, Hyperkeratosis, Self-injurious behavior, Congenital ichthyosiform erythroderma, Icht... |
ORPHA:457 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Small for gestational age, Decreased response to growth hormone stimula... |
ORPHA:177901 |
Cranioectodermal Dysplasia 3 |
|
Short nail, Broad nail, Cutis laxa, Fine hair, Sparse hair, Dry skin |
OMIM:614099 |
Galactose Epimerase Deficiency |
|
Jaundice, Weight loss |
ORPHA:79238 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr... |
ORPHA:69085 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Edema, Cryptorch... |
ORPHA:739 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... |
ORPHA:229717 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Small for gestational age, Decreased response to growth hormone stimula... |
ORPHA:98754 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Genital edema, Eczema, Increased T cell count, Chronic mucocutaneous candidiasis, Pedal edema, In... |
ORPHA:98813 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey... |
ORPHA:2273 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Adrenocorticotropic hormone excess |
ORPHA:100083 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Iridocycliti... |
ORPHA:85436 |
Autoimmune Lymphoproliferative Syndrome |
|
Hydrops fetalis, Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of ... |
ORPHA:3261 |
Morgagni-Stewart-Morel Syndrome |
|
Acne, Osteoarthritis, Obesity, Hyperuricemia, Hypercholesterolemia, Hirsutism |
ORPHA:77296 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia, Absence of subcutaneous fat |
OMIM:176670 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, ... |
ORPHA:79501 |
Hemochromatosis, Type 1 |
|
Alopecia, Increased circulating ferritin concentration, Splenomegaly, Increased serum iron, Pleur... |
OMIM:235200 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Aggressive behavior, Cryptorchidism, Patchy alopecia, Decreased testicul... |
ORPHA:85279 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Eczema, Sparse body hair |
ORPHA:1810 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
ORPHA:254516 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Self-mutilation, Polyphagia, Obesity, Aggressive behavior |
OMIM:616521 |
Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Keratitis, Hyperparakeratosis, ... |
ORPHA:182 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Adnp Syndrome |
|
Sparse scalp hair, Inguinal hernia, Oral-pharyngeal dysphagia, Aggressive behavior, Cryptorchidis... |
ORPHA:404448 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Premature graying of hair, S... |
ORPHA:363618 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Eczema, Highly arched eyebrow, Synophrys, Recurrent pneumonia, Patent ductus arter... |
OMIM:617751 |
Syndromic Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Acute leukemia, Hyperkeratosis, Attention deficit hyperactivity disorder, Ichthyo... |
ORPHA:281090 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Inguinal hernia, Absent eyelashes, Cryptorchidism, Small nail, Ichthyosis |
ORPHA:166035 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali... |
OMIM:133200 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Hyperactivity, Keratitis, Splenomegaly, Oligohydramnios, Neutropenia in presence of... |
ORPHA:525731 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, White hair, Premature graying of hair, Periodontitis, Skin vesicle, S... |
ORPHA:1775 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Premature graying of hair, Alopecia, Lack of skin elasticity, Skin ulcer, Ge... |
ORPHA:79474 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Bresek Syndrome |
|
Cryptorchidism, Alopecia, Decreased testicular size, Ichthyosis |
ORPHA:85284 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Highly arched eyebrow, Aggressive behavior, Low posterior hairline, Self-injurious behavior, Long... |
OMIM:156200 |
Kikuchi-Fujimoto Disease |
|
Alopecia, Skin rash, Palpebral edema, Elevated circulating C-reactive protein concentration, Anor... |
ORPHA:50918 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary |
OMIM:241090 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... |
OMIM:604416 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Parakeratosis, Pancytopenia, Skin rash, Maculopapular exanthema, Aplastic anemi... |
ORPHA:398124 |
Xfe Progeroid Syndrome |
|
Cachexia, Absence of subcutaneous fat, Dry skin, Corneal scarring, Ascites, Hypoalbuminemia, Enam... |
OMIM:610965 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia, Primary adrenal insufficiency, Graves disease, Hashimoto thyroiditis |
ORPHA:3143 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Cln3 Disease |
|
Acne, Aggressive behavior, Vacuolated lymphocytes, Dysphagia, Hirsutism |
ORPHA:228346 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Adrenoleukodystrophy |
|
Elevated circulating long chain fatty acid concentration, Alopecia, Attention deficit hyperactivi... |
OMIM:300100 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Sm... |
OMIM:610644 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity, Alopecia, Supernumerary nipple |
ORPHA:3224 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Abnormal dental enamel morphology, Anorexia, Thickened skin, Weight los... |
ORPHA:79430 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Aggressive behavior, Cryptorchidism, Self-mutilation, Fine hair, Sparse hair, Polyp... |
ORPHA:251028 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemia, Erythema no... |
OMIM:300635 |
Prolidase Deficiency |
|
Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Sk... |
OMIM:170100 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Failure to thrive in infancy, Decreased response to growth hormone stim... |
OMIM:176270 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Abnormality of the anterior pituitary, Coarse hair, Posterior pituitary h... |
ORPHA:75389 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Failure to thrive, Flexion contracture, Inguinal... |
OMIM:222765 |
Ameloonychohypohidrotic Syndrome |
|
Onycholysis, Dry skin, Hypocalcification of dental enamel, Seborrheic dermatitis |
OMIM:104570 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Plantar hyperkeratosis, Porokeratosis, Small for gestational age, Alopecia totalis, A... |
ORPHA:221016 |
Gaucher Disease, Perinatal Lethal |
|
Nonimmune hydrops fetalis, Polyhydramnios, Thrombocytopenia, Splenomegaly, Dysphagia, Hepatosplen... |
OMIM:608013 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Alopecia, Pancreatitis, Dysphagia |
ORPHA:412057 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Alopecia, Multiple joint contractures, Small for gestational age, Lack ... |
ORPHA:2959 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Fasciitis, Osteomyelitis, Hyperactivity, Abscess, Impulsivity, Tooth abscess, Cornea... |
ORPHA:642 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Synophrys, Umbilical hernia, Failure to thrive, ... |
OMIM:616977 |
Eosinophilopenia |
|
Decreased eosinophil count, Allergic rhinitis |
OMIM:131430 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytop... |
ORPHA:508542 |
Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Nail dystrophy, Palmoplantar hyperkeratosis, Onychogryposis |
OMIM:167200 |
Tangier Disease |
|
Hypertriglyceridemia, Thrombocytopenia, Hepatosplenomegaly, Nail dystrophy, Hypocholesterolemia, ... |
ORPHA:31150 |
Satoyoshi Syndrome |
|
Alopecia, Mildly elevated creatine kinase, Alopecia universalis |
OMIM:600705 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Alopecia, Hypertriglyceridemia, Widened atrophic scar, Redundant skin, Inguinal h... |
ORPHA:536532 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Splenomegaly, Synophrys, Coarse hair, Hernia, Dysphagia, Hirsutism, Hypertrichosis |
OMIM:252930 |
Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Absent eyebrow, Alopecia, Sparse scalp hair, Inguinal hernia, Alopecia totalis, Bila... |
OMIM:263650 |
Monosomy 18P |
|
Lymphedema, Alopecia, Low posterior hairline |
ORPHA:1598 |
Cole Disease |
|
Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:615522 |
Lymphatic Malformation 12 |
|
Inguinal hernia, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Hydrocele ... |
OMIM:620014 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr... |
OMIM:615023 |
Refsum Disease |
|
Splenomegaly, Dry skin, Nail dysplasia, Ichthyosis |
ORPHA:773 |
Wiedemann-Steiner Syndrome |
|
Elbow hypertrichosis, Brow ptosis, Broad lateral eyebrow, Hyperactivity, Thick hair, Highly arche... |
OMIM:605130 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Cryptorchidism, Alopecia, Oligohydramnios, Fine hair |
ORPHA:228390 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Failure to thrive, Hip contracture, Sparse eyelashes, Shoulder flexion contrac... |
OMIM:210710 |
Riddle Syndrome |
|
Dry skin |
OMIM:611943 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Failure to thrive, Cryptorchidism... |
OMIM:216400 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Osteosarcoma |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... |
ORPHA:668 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Hypertriglyceridemia, Obesity, Abnormal granulocyte morphology, Abnormal circulating cr... |
ORPHA:98907 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis, Epidermal acanthosis |
ORPHA:199267 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Failure to thrive, Nail dystrophy |
OMIM:616353 |
Xeroderma Pigmentosum Variant |
|
Keratitis, Dry skin |
ORPHA:90342 |
Johanson-Blizzard Syndrome |
|
Alopecia, Abnormal hair pattern, Edema, Failure to thrive, Hypoproteinemia, Anemia |
ORPHA:2315 |
Thymic Carcinoma |
|
Weight loss, Hyperhidrosis |
ORPHA:99868 |
Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail |
OMIM:181600 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Decreased response to growth hormone st... |
OMIM:615577 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alo... |
ORPHA:251393 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Hypereosinophilia, Elevated circulating C-reactive protein conce... |
ORPHA:449400 |
7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... |
ORPHA:96121 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Epidermal acanthosis, Hypergranulosis, Erythroderma, Palmoplantar keratoderma, Ichthyosis |
OMIM:615022 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Splenomegaly, Dry skin, Aplasia of the sweat glands, Sparse hair, Failure to t... |
OMIM:612132 |
Biotinidase Deficiency |
|
Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Hyperammonem... |
OMIM:253260 |
Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
Cystic Echinococcosis |
|
Abscess, Abnormality of the testis size, Eosinophilia, Weight loss, Ovarian cyst, Membranous neph... |
ORPHA:400 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia, Polyphagia, Obesity |
OMIM:617885 |
Leigh Syndrome |
|
Alopecia, Multiple joint contractures, Eczema, Neutropenia, Dysphagia, Hyperalaninemia, Frontal h... |
ORPHA:506 |
Loeffler Endocarditis |
|
Pericarditis, Eosinophilia, Weight loss |
ORPHA:75566 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Eczema, Highly arched eyebrow, Aggressive behavior, Obesity, Self-injurious behavi... |
OMIM:600430 |
Wilson Disease |
|
Acute hepatic failure, Elevated hepatic transaminase, Pruritus, Jaundice, Hepatitis, Increased bo... |
ORPHA:905 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Acute hyperammonemia, Seborrheic dermatitis, Hyperammonemia, Hyperleucinemia, Failure t... |
OMIM:210210 |
Spinocerebellar Ataxia Type 34 |
|
Dry skin |
ORPHA:1955 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Enterocolitis, Abnormal blood ion concentration, Weight loss, Dehydration,... |
ORPHA:95427 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Enlarged ovaries, Thickened skin, Acanthosis nigricans, Hype... |
ORPHA:508 |
Chanarin-Dorfman Syndrome |
|
Alopecia, Congenital nonbullous ichthyosiform erythroderma |
OMIM:275630 |
Noonan Syndrome 10 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Increased nuchal translucency, Patent ductus arterios... |
OMIM:616564 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patent ductus arterio... |
OMIM:106260 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis, Agitation, Self-injurious behavior |
OMIM:618339 |
Keutel Syndrome |
|
Recurrent otitis media, Alopecia, Recurrent sinusitis |
ORPHA:85202 |
Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Glomerulonephritis, Lymphedema, Orchitis, Lymphadenitis, Kne... |
ORPHA:2035 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Weight loss, Hyperhidrosis, Pheochromocytoma, Nodular goiter |
ORPHA:1332 |
Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Ascites, Leukopenia, Absent fingernail, Sparse hair, Fail... |
ORPHA:974 |
Pachydermoperiostosis |
|
Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnormal hair patter... |
ORPHA:2796 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Hypopigmentation of hair, Thickened skin, Albinism |
ORPHA:79431 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Inguinal hernia, Splenomegaly, Synophrys, Coarse hair, Umbilical hernia, Hirsutism |
OMIM:252900 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity |
OMIM:618406 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Polyhydramnios, Decreased proportion of CD8-positive T cells, Recurrent pneumonia, Elbow flexion ... |
ORPHA:508533 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Abnormal dental enamel morphology, Pancreatic cysts, Coarse hair, Sparse ... |
ORPHA:2750 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Adrenocortical Carcinoma |
|
Adrenocorticotropic hormone deficiency, Increased body weight, Hyperhidrosis, Weight loss, Increa... |
ORPHA:1501 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Hemolytic anemia, Thickened skin, Scleroderma, Loss of eyelashes, Splen... |
OMIM:263700 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Osteomyelitis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Leukonychia, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Pituitary hypothyroidism, Obesity, Hypoplasia of the ovary, Decreased propo... |
ORPHA:66628 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia |
ORPHA:1647 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Giant Cell Arteritis |
|
Alopecia, Pericarditis, Anorexia, Skin ulcer, Weight loss, Arthritis |
ORPHA:397 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Pituitary hypothyroidism, Obesity, Hypoplasia of the ovary, Decreased propo... |
ORPHA:179494 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Alopecia, Skin rash, Hyperammonemia |
OMIM:253270 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Flexion contracture, Xerostomia, Skin vesicle, Alopecia, Thickened skin, Bro... |
ORPHA:99921 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis, Osteomyelitis |
OMIM:615632 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Eosinophilia, Pancreatic cysts, Pedal edema, Weight loss, Abnormal sp... |
ORPHA:284 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Nail pits, Hepatic necrosis, Premature ... |
OMIM:127550 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Reticular Dysgenesis |
|
Failure to thrive, Skin rash, Weight loss |
ORPHA:33355 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Edema, Polyhydramnios, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated ... |
OMIM:302960 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecz... |
ORPHA:83617 |
Familial Benign Copper Deficiency |
|
Early balding, Decreased circulating copper concentration, Acne, Anemia |
ORPHA:1551 |
Riddle Syndrome |
|
Pneumonia, Elevated circulating alpha-fetoprotein concentration, Erythema, Recurrent pneumonia, W... |
ORPHA:420741 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Decreased circulating cortisol level, Acne, Testicular adrenal rest tumor, Polycystic o... |
ORPHA:90795 |
White Sponge Nevus 2 |
|
Hyperparakeratosis, Epidermal acanthosis, Edema |
OMIM:615785 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Aggressive behav... |
OMIM:614963 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hyperkeratosis with erythema, Knee flexion contracture, Coarse hair, Sparse hair |
OMIM:118650 |
Hydroxykynureninuria |
|
Stomatitis, Abnormal circulating tryptophan concentration, Dry skin, Abnormal repetitive mannerisms |
ORPHA:79155 |
2Q37 Microdeletion Syndrome |
|
Sparse scalp hair, Eczema, Supernumerary nipple, Highly arched eyebrow, Sparse eyebrow, Congenita... |
ORPHA:1001 |
Focal Dermal Hypoplasia |
|
Omphalocele, Alopecia, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmat... |
ORPHA:2092 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Absent eyebrow, Omphalocele, Redundant skin, Absent eyelashes, Hypoplastic nipple... |
OMIM:200110 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Hypercalcemia, Renal hypophospha... |
ORPHA:94059 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Erythroderma |
OMIM:617425 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Elevated circulating alkaline phosphatase concentration, Alopecia |
OMIM:600785 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Palpebral edema, Sparse eyebrow, Early balding, Umbilical hernia |
ORPHA:2067 |
Angiostrongyliasis |
|
Pruritus, Hypereosinophilia, Cerebral edema |
ORPHA:74 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Cryptorchidism, Lipoma, Multiple central nervous system lipomas, Subcutaneous lipoma |
OMIM:613001 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Erythema, Skin ulcer, Atrophic scars, Granuloma, Abnormalit... |
ORPHA:542592 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... |
ORPHA:449395 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Acne, Frontal balding, Synophrys, Obesity, Facial hirsutism, High anterior hairlin... |
ORPHA:247768 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes |
OMIM:616367 |
Blau Syndrome |
|
Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema... |
ORPHA:90340 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, ... |
OMIM:230740 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly of finger, Erythema, ... |
ORPHA:2908 |
Mogs-Cdg |
|
Alopecia, Pulmonary edema, Edema, Polyhydramnios, Thrombocytopenia, Hepatosplenomegaly, Hydrocele... |
ORPHA:79330 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Nail dystrophy, Dysphagia, Failure to thrive, Decreased testicular si... |
OMIM:620040 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Septo-Optic Dysplasia Spectrum |
|
Anterior pituitary hypoplasia, Cryptorchidism, Obesity, Polydipsia, Dry skin |
ORPHA:3157 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Lipodystrophy, Intestinal inflammation, C... |
OMIM:619858 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M... |
OMIM:256040 |
Acrokeratoelastoidosis Of Costa |
|
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis, Orthokeratosi... |
ORPHA:38 |
Leprosy |
|
Absent eyebrow, Alopecia, Abnormality of the spleen, Testicular mass, Loss of eyelashes, Penetrat... |
ORPHA:548 |
Viss Syndrome |
|
Sparse scalp hair, Alopecia, Chronic gastritis, Inguinal hernia, Eczema, Polyhydramnios, Patent d... |
OMIM:619472 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Premature graying of hair, Abnormal hair morphology, Cachexia, Weight loss |
ORPHA:1979 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic h... |
OMIM:269200 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Abnormal fingernail morphology, Bronchiectasis, Weight loss |
ORPHA:1164 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Vitamin D-Dependent Rickets, Type 2A |
|
Alopecia universalis, Secondary hyperparathyroidism, Hypophosphatemia, Enamel hypoplasia, Failure... |
OMIM:277440 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Polydipsia, Polyphagia, Obesity |
OMIM:615986 |
Sialidosis Type 1 |
|
Splenomegaly, Hyperkeratosis, Hernia |
ORPHA:812 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Inguinal hernia, Camptodactyly of finger, Cachexia, Abnormal hair pattern, Aggress... |
ORPHA:85293 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Hyperactivity, Osteomyelitis, Keratitis, Corneal scarring, Acral ulceration, N... |
OMIM:256800 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Lipodystrophy, Skin rash, Elevate... |
OMIM:618048 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis, Lymphedema |
ORPHA:79279 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Impulsivity, Abnormality of hair texture, Aggressive behavior, Thickened skin, Synophrys, Hypopla... |
ORPHA:73223 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Restlessness, Hyperactivity, Aggressive behavior, Cryptorchidism, Flexion contracture, Patchy alo... |
OMIM:300534 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Failure to thrive, Eczema, Inguinal hernia, Aggressi... |
OMIM:601358 |
Mcdonough Syndrome |
|
Cryptorchidism, Synophrys, Cachexia |
ORPHA:2471 |
Chime Syndrome |
|
Erythema, Skin ulcer, Fine hair, Acute leukemia, Hyperkeratosis, Ichthyosis, Sparse hair |
ORPHA:3474 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis, Dy... |
ORPHA:449427 |
Aggressive Systemic Mastocytosis |
|
Maculopapular exanthema, Portal hypertension, Pruritus, Weight loss, Elevated circulating alkalin... |
ORPHA:98850 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Myositis, Sinusitis, Skin rash, Hypertriglyceridemia, Lipodystrophy, Periorbital ede... |
OMIM:617591 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... |
OMIM:163950 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Alopecia totalis, Elevated circulating creatine kinase concentration, ... |
OMIM:618775 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Takayasu Arteritis |
|
Weight loss, Hyperhidrosis |
ORPHA:3287 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of the ovary, Abnormality of the... |
ORPHA:3130 |
Localized Scleroderma |
|
Fasciitis, Abnormal skin adnexa morphology, Thickened skin, Erythema, Flexion contracture, Uveiti... |
ORPHA:90289 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Neutropenia, Dry skin, Ichthyosis... |
OMIM:617827 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Eosinophilia, Edema of the dorsum of hands, Pancreatic cysts, Seborr... |
OMIM:274000 |
Peroxisome Biogenesis Disorder 14B |
|
Hydrocele testis, Dry skin |
OMIM:614920 |
Fibrodysplasia Ossificans Progressiva |
|
Elevated circulating alkaline phosphatase concentration, Alopecia |
OMIM:135100 |
Fucosidosis |
|
Lipoatrophy, Failure to thrive, Generalized hyperkeratosis, Abnormality of the nail |
ORPHA:349 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypophosphatemic rickets, Alopecia, Ichthyosis |
OMIM:163200 |
Irida Syndrome |
|
Hyperkeratosis, Decreased circulating copper concentration, Pallor, Ichthyosis |
ORPHA:209981 |
Atopic Keratoconjunctivitis |
|
Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Dry skin, Blepharitis |
ORPHA:163934 |
Insulinoma |
|
Increased body weight, Primary hyperparathyroidism, Polyphagia, Pituitary prolactin cell adenoma |
ORPHA:97279 |
Colchicine Poisoning |
|
Hyponatremia, Alopecia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Dehydration,... |
ORPHA:31824 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Inguinal hernia, Absence of Stensen duct, Decreased response to growth hormone... |
OMIM:129900 |
Non-Functioning Paraganglioma |
|
Episodic hyperhidrosis, Weight loss |
ORPHA:94080 |
Mucopolysaccharidosis, Type Iiid |
|
Restlessness, Hyperactivity, Inguinal hernia, Aggressive behavior, Splenomegaly, Synophrys, Achil... |
OMIM:252940 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Testi... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Testi... |
ORPHA:363958 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... |
OMIM:606545 |
Bethlem Myopathy |
|
Multiple joint contractures, Elevated circulating creatine kinase concentration, Interphalangeal ... |
ORPHA:610 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Cryptorc... |
ORPHA:2232 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Recurrent skin infections, Pneumonia, Edema, Paronychia, Abnormal blood ion concentrati... |
ORPHA:79404 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d... |
OMIM:615726 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Weight loss |
ORPHA:703 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia, Eczema, Edema, Pruritus, Erythema, Cholelithiasis |
OMIM:177000 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis |
OMIM:610227 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Pituitary hypothyroidism, Abnormal circu... |
ORPHA:99832 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Neutropenia, Bronchiectasis, Hepa... |
ORPHA:33110 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Edema, Pustule, Congenital h... |
ORPHA:77297 |
Biotinidase Deficiency |
|
Alopecia, Skin rash, Hyperammonemia, Conjunctivitis, Eczematoid dermatitis |
ORPHA:79241 |
Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Xero... |
ORPHA:227990 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis, High anterior hairline, Dysphagia |
OMIM:615510 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Hypercalcemia, Abnormal dental enamel morphology, Obesi... |
ORPHA:251004 |
Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia, Atrophic gastritis, Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thromb... |
ORPHA:227982 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Fine hair, Hypohidr... |
OMIM:613451 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Fatal Familial Insomnia |
|
Weight loss, Hyperhidrosis |
OMIM:600072 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... |
ORPHA:1234 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Skin rash, Pruritus, Weight loss, Palmoplantar pustulosis |
ORPHA:324964 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Flexion contracture, Follicular hyperkeratosis, Failure to thrive, Slender build, Mildly elevated... |
OMIM:254090 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology, Abnormal epidermal morphology, Scarring |
ORPHA:398189 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Lipoatrophy, Chilblains, Neonatal alloimmune thrombocytope... |
ORPHA:51 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Alopecia, Anterior pituitary hypoplasia |
ORPHA:453533 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Chronic gastritis, Inguinal hernia, Bilateral cryptorchidism, Redundant skin i... |
OMIM:150230 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Sparse eyelashes, Pneumonia... |
ORPHA:125 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Weight loss |
ORPHA:86884 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Generalized hirsutism, Cachexia |
ORPHA:1933 |
Yao Syndrome |
|
Xerostomia, Inflammatory abnormality of the skin, Skin rash, Weight loss |
OMIM:617321 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Pustule, Glucocortocoid-insensitive primary hyperaldosteronism, Ato... |
ORPHA:171876 |
Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Camptodactyly of finger, Pustule, Erythema, Xerostomia, Skin ulcer, Palmoplantar hyperker... |
ORPHA:2907 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Cryptorchidism, Abnormal re... |
OMIM:615873 |
Distal Deletion 19P |
|
Alopecia, Vaginal hernia, Umbilical hernia, Keloids, Thick eyebrow |
ORPHA:96129 |
Trichotillomania |
|
Hair-pulling, Alopecia, Compulsive behaviors |
OMIM:613229 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Xerostomia, Gastrointestinal inflammation, Conjunctivitis, N... |
ORPHA:95455 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Redundant neck skin, Small for gestational age, Elevated ci... |
ORPHA:79332 |
Chand Syndrome |
|
Curly hair, Dry skin, Nail dysplasia |
ORPHA:1401 |
Familial Thrombocytosis |
|
Pruritus, Weight loss, Hyperhidrosis |
ORPHA:71493 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, T lymphocytope... |
ORPHA:277 |
Relapsing Polychondritis |
|
Episcleritis, Alopecia, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Erythema, Hepa... |
ORPHA:728 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Sparse eyelashes, Absence of Stensen duct, Decreased response to growth hormon... |
OMIM:604292 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Increased circulating free T4 concentration, Weight loss, Increased circulating ... |
OMIM:613239 |
Christianson Syndrome |
|
Cachexia, Thick eyebrow |
ORPHA:85278 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Allergic rhinitis, Pruritus, Erythrod... |
ORPHA:330064 |
Ramon Syndrome |
|
Hyperkeratosis, Decreased body weight, Juvenile rheumatoid arthritis, Hypertrichosis |
OMIM:266270 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Small for gestational age, Absent ... |
OMIM:268400 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Cryptorchidism, Pericard... |
OMIM:235510 |
Mednik Syndrome |
|
Hyperkeratosis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper c... |
ORPHA:171851 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Camptodactyly of finger, Cryptorchidism, Abnormality of the spleen, ... |
ORPHA:1606 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Eosinophilia, Facial edema, Periorbital edema, Prostatitis, Enlarged lacrimal glands... |
ORPHA:449432 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Acanthosis nigricans, Hypop... |
OMIM:300942 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Palpebral edema, Cholangitis, Elevated circulating C-reactive protein concentration, E... |
ORPHA:449563 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Dry skin, Skin rash, Cachexia |
ORPHA:220295 |
Chédiak-Higashi Syndrome |
|
Edema, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, ... |
ORPHA:167 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis |
OMIM:148600 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Lipoma, Hyperkeratosis, Pilomatrixoma, Multinodular goiter |
OMIM:620189 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Poems Syndrome |
|
Primary adrenal insufficiency, Abnormality of skin physiology, Leukonychia, Weight loss, Hypothyr... |
ORPHA:2905 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Pruritus, Jaundice, Ovarian neoplasm, Weight loss, Increased circulatin... |
ORPHA:370348 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Maculopapular exanthema, Skin rash, Increased circulating ferritin concentr... |
ORPHA:540 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Leukopenia... |
ORPHA:536 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Decreased response to growth hormone stimulation test, Reduced circulating prolactin ... |
ORPHA:79444 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Weight loss |
ORPHA:298 |
Estrogen Resistance Syndrome |
|
Acne, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotro... |
ORPHA:785 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perianal erythema, Pustule, Paronychia, Perioral erythema, Erythroderma, Failure to thrive, Bleph... |
OMIM:614328 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Helix Syndrome |
|
Hyperparathyroidism, Hypermagnesemia, Xerostomia, Hypokalemia, Polydipsia, Dry skin |
OMIM:617671 |
Nodular Non-Suppurative Panniculitis |
|
Panniculitis, Weight loss |
ORPHA:33577 |
Coffin-Siris Syndrome |
|
Sparse scalp hair, Thick eyebrow, Hyperactivity, Hypoplastic fifth toenail, Aggressive behavior, ... |
ORPHA:1465 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Abnormal lactate dehydrogenase level, Decreased liver function, Ca... |
ORPHA:42 |
Ring Chromosome 12 Syndrome |
|
Acne, Small for gestational age, Cryptorchidism, Hirsutism, Breast hypoplasia, Dystrophic toenail |
ORPHA:1439 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Multiple lipomas, Alopecia, Lipodystrophy |
ORPHA:2396 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Increased body mass index, Elevated circulating growth hormone concentr... |
ORPHA:300373 |
Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
W Syndrome |
|
Acne, Abnormality of the scalp hair, Camptodactyly |
ORPHA:2804 |
Aredyld Syndrome |
|
Cachexia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1133 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia |
OMIM:617763 |
Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia, Decreased testicular size |
OMIM:612469 |
Plague |
|
Chapped lip, Skin rash, Anorexia, Edema, Erythema nodosum, Lymphadenitis, Splenomegaly, Enterocol... |
ORPHA:707 |
Xylt1-Cdg |
|
Truncal obesity, Synophrys, Acne, Hirsutism |
ORPHA:370930 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Weight loss, Goiter |
OMIM:188580 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Splenome... |
OMIM:615895 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Uveitis,... |
ORPHA:2108 |
Darier-White Disease |
|
Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Enlargement of parotid gland, Subungual hyper... |
OMIM:124200 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Dry skin, Flexion contracture |
OMIM:619306 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Caroli Disease |
|
Portal hypertension, Pruritus, Intrahepatic cholestasis, Jaundice, Elevated circulating alanine a... |
ORPHA:53035 |
Say-Barber-Miller Syndrome |
|
Abnormality of the hairline, Highly arched eyebrow, Eczema, Sparse eyebrow, Cryptorchidism, Eryth... |
ORPHA:3132 |
Kanzaki Disease |
|
Hyperkeratosis, Dry skin, Petechiae, Lymphedema |
OMIM:609242 |
Immunodeficiency 89 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Bronchiectasis, Hypochromic microcytic ane... |
OMIM:619632 |
Gm1 Gangliosidosis |
|
Weight loss, Decreased beta-galactosidase activity, Failure to thrive, Generalized hirsutism, Hir... |
ORPHA:354 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Elevated alkaline phosphatas... |
ORPHA:398063 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Decreased response to growth hormone stimulation test, Reduced circulating prolactin ... |
ORPHA:79443 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Erythema, Epididymitis, Arthritis, Patchy alopecia, Iritis |
OMIM:109650 |
Kaposi Sarcoma |
|
Skin rash, Weight loss |
ORPHA:33276 |
Dubowitz Syndrome |
|
Sparse scalp hair, Hyperactivity, Inguinal hernia, Aplastic anemia, Eczema, Cryptorchidism, Acute... |
OMIM:223370 |
Leishmaniasis |
|
Elevated hepatic transaminase, Weight loss |
ORPHA:507 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer, Abnormal B-type natriuretic peptide concentration |
ORPHA:90307 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Recurrent skin infections, Decreased serum iron, Flexion contracture, Dysphagi... |
ORPHA:89842 |
Complete Androgen Insensitivity Syndrome |
|
Acne, Sparse axillary hair, Elevated circulating luteinizing hormone level, Bilateral cryptorchid... |
ORPHA:99429 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Overweight, Leukocy... |
ORPHA:247353 |
African Trypanosomiasis |
|
Alopecia, Pericarditis, Aggressive behavior, Keratitis, Myocarditis, Pruritus, Splenomegaly, Weig... |
ORPHA:3385 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss |
ORPHA:1842 |
Glucagonoma |
|
Neoplasm of the pancreas, Skin rash, Stomatitis, Elevated circulating growth hormone concentratio... |
ORPHA:97280 |
Pneumocystosis |
|
Increased circulating lactate dehydrogenase concentration, Weight loss, Chronic oral candidiasis |
ORPHA:723 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Hyperlipidemia, Fine hair, Sparse hair, Decreased testicular size |
OMIM:241080 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail |
ORPHA:28378 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
ORPHA:90003 |
Acute Monoblastic/Monocytic Leukemia |
|
Increased circulating lactate dehydrogenase concentration, Central hypothyroidism, Weight loss |
ORPHA:514 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Autosomal Recessive Robinow Syndrome |
|
Alopecia, Inguinal hernia, Camptodactyly of finger, Cryptorchidism, Long eyelashes, Fingernail dy... |
ORPHA:1507 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Episodic hyperhidrosis, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma |
ORPHA:276621 |
Wolman Disease |
|
Hepatic failure, Adrenal insufficiency, Cachexia |
ORPHA:75233 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Leukocy... |
OMIM:615688 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Aggressive behavior, Adrenoc... |
ORPHA:293987 |
6Q Terminal Deletion Syndrome |
|
Highly arched eyebrow, Low anterior hairline, Obesity, Hyperkeratosis, Failure to thrive |
ORPHA:75857 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Leukocytosis, Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Azotemia... |
OMIM:619321 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Cachexia, Testicular neoplasm, Weight loss, Ovarian neoplasm |
ORPHA:83469 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Acute hepatic failure, Portal hypertension, Jaundice, Weight loss |
ORPHA:131 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Adenoma sebaceum, Skin ulcer |
ORPHA:493 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Hyperhidrosis, Decreased testicu... |
ORPHA:813 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Abnormality of the ovary, Hirsutism, Polycystic ovaries |
ORPHA:2795 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lipodystrophy, Skin rash, Failure to thrive in infancy, Elevated circulating C-reac... |
OMIM:617099 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Acute myeloid leukemia, Sparse eyelashes, Pancytopenia, Crypto... |
OMIM:305000 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Cachexia, Pruri... |
ORPHA:275761 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Primary hyperparat... |
ORPHA:97289 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis |
ORPHA:163966 |
Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss |
ORPHA:3208 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Recurrent skin infections, Glomerulonephritis, Foot joint contracture, Flexion contracture, Gastr... |
ORPHA:79408 |
Fabry Disease |
|
Anorexia, Lymphedema, Hyperlipidemia, Hyperkeratosis, Arthritis, Abnormal circulating lipid conce... |
ORPHA:324 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Aggressive behavior, Cryptorchidism, Synophrys, Patent ductus arteriosus... |
OMIM:607872 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t... |
ORPHA:811 |
Mycetoma |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis |
ORPHA:2583 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Ectopic thyroid, Hyperbilirubinemia, Umbilical hernia,... |
OMIM:218700 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615735 |
Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Pancreatic cysts, Ovarian cyst, Sparse hair, Enamel hypoplasia |
OMIM:311200 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Estrogen Resistance |
|
Acanthosis nigricans, Breast aplasia, Acne, Polycystic ovaries |
OMIM:615363 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Atrophic scars, Rheumatoid ar... |
ORPHA:48104 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, Failure to thrive in infancy, Abnormal fingernail morphology, Hashimoto thyroiditis, Ly... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Alopecia, Failure to thrive in infancy, Abnormal fingernail morphology, Hashimoto thyroiditis, Ly... |
ORPHA:99228 |
Monosomy X |
|
Alopecia, Failure to thrive in infancy, Abnormal fingernail morphology, Hashimoto thyroiditis, Ly... |
ORPHA:99226 |
Turner Syndrome |
|
Alopecia, Failure to thrive in infancy, Abnormal fingernail morphology, Hashimoto thyroiditis, Ly... |
ORPHA:881 |
Autosomal Dominant Robinow Syndrome |
|
Alopecia, Inguinal hernia, Femoral hernia, Camptodactyly of finger, Curly eyelashes, Cryptorchidi... |
ORPHA:3107 |
Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
Steinert Myotonic Dystrophy |
|
Alopecia, Hypercholesterolemia, Decreased response to growth hormone stimulation test, Polyhydram... |
ORPHA:273 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
Sympathetic Ophthalmia |
|
Alopecia, Poliosis, Erythema, Macular edema, Posterior uveitis |
ORPHA:79098 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Tsh-Secreting Pituitary Adenoma |
|
Abnormal hair quantity, Enlarged pituitary gland, Hyperthyroidism, Elevated circulating growth ho... |
ORPHA:91347 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Eczema, Aggressive behavior, Hair-pulling, Recurrent pneumonia, Polyphagia, Self-inj... |
OMIM:620330 |
Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Inflammatory abnormality of the skin, Small for gestational age, Pneumonia, Elevated circulating ... |
ORPHA:26793 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Abnormal testis morphology, Weight loss |
ORPHA:54251 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Multiple joint contractures, Small for gestational age, Eczema, Anterior pituitary... |
ORPHA:464306 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Intermittent jaun... |
ORPHA:100085 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia, Adenoma sebaceum |
ORPHA:2612 |
Wild Type Attr Amyloidosis |
|
Elevated circulating alkaline phosphatase concentration, Weight loss |
ORPHA:330001 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Weight loss, Goiter |
ORPHA:142 |
Grfoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Intrahepatic cholest... |
ORPHA:97261 |
Immunodeficiency 59 And Hypoglycemia |
|
Recurrent skin infections, Herpes simplex encephalitis, Decreased proportion of class-switched me... |
OMIM:233600 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentration, Prur... |
ORPHA:79099 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Portal hypertension, Weight loss, Hypothyroidism, Chronic hepatic failure, Testicular atrophy |
ORPHA:465508 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Seborrheic dermatitis, Hyperparakeratosis, Hydrocele testis, Multiple lipomas, Ovari... |
ORPHA:276280 |
Osteootohepatoenteric Syndrome |
|
Pruritus, Failure to thrive, Weight loss, Prolonged neonatal jaundice |
OMIM:619377 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Inguinal hernia, Polyhydramnios, Patent ductus arteriosus, Cutis laxa, Atrophic scars, Follicular... |
OMIM:614557 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Pruritus, Splenomegaly, Hepatitis, Uveitis, Ulcerative colitis, T... |
ORPHA:171 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Cryptorchidism, Testicular adrenal rest tumor, Weight loss,... |
ORPHA:361 |
Proteus Syndrome |
|
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Cachexia, Enlarged po... |
ORPHA:744 |
Phakomatosis Pigmentokeratotica |
|
Cryptorchidism, Patchy alopecia, Pheochromocytoma, Hyperhidrosis |
ORPHA:2874 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Alopecia totalis, Osteoarthritis, Loss of eyelashes, Absence of subcutaneous fat,... |
ORPHA:740 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevat... |
OMIM:619991 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Episodic hyperhidrosis, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma |
ORPHA:29072 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Edem... |
ORPHA:793 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... |
ORPHA:32960 |
Craniopharyngioma |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Obesity, ... |
ORPHA:54595 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Weight loss, Ovarian carcinom... |
ORPHA:1333 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Hennekam Syndrome |
|
Lymphopenia, Camptodactyly of finger, Sparse axillary hair, Lymphedema, Pericardial effusion, Spl... |
ORPHA:2136 |
Polymyositis |
|
Weight loss, Elevated circulating aldolase concentration |
ORPHA:732 |
Malt Lymphoma |
|
Weight loss, Hyperhidrosis |
ORPHA:52417 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Sparse hair, Acanthosis nigrica... |
ORPHA:3455 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Epidermal acanthosis |
OMIM:618267 |
Generalized Glucocorticoid Resistance Syndrome |
|
Adrenal hyperplasia, Acne, Frontal balding, Hypokalemia, Increased circulating cortisol level, Hi... |
ORPHA:786 |
Bronchial Neuroendocrine Tumor |
|
Increased circulating cortisol level, Hepatic failure, Elevated circulating growth hormone concen... |
ORPHA:97287 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Primary Myelofibrosis |
|
Increased circulating lactate dehydrogenase concentration, Cachexia, Portal hypertension |
ORPHA:824 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Inguinal hernia, Synophrys, Atypical scarring of skin, Follicular hyperkeratosis, Umbilical hernia |
ORPHA:536545 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Skin rash, Eczema, Weight loss |
ORPHA:79128 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Monosomy 22Q13.3 |
|
Hyperactivity, Recurrent skin infections, Palpebral edema, Lymphedema, Hypoplastic toenails, Hair... |
ORPHA:48652 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Otitis med... |
ORPHA:64 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
Polycythemia Vera |
|
Pruritus, Portal hypertension, Weight loss |
ORPHA:729 |
Erdheim-Chester Disease |
|
Weight loss, Skin rash, Hyperhidrosis |
ORPHA:35687 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Kawasaki Disease |
|
Abnormality of nail color, Pericarditis, Skin rash, Edema, Myocarditis, Leukocytosis, Hepatitis, ... |
ORPHA:2331 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Alzahrani-Kuwahara Syndrome |
|
Self-mutilation, Dry skin, Eczema |
OMIM:619268 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Small for gestational age, Limb joint contracture, Decreased resting energy expenditure, Splenome... |
ORPHA:404454 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Tropical Endomyocardial Fibrosis |
|
Eosinophilia, Cachexia, Splenomegaly, Pedal edema, Peripheral edema, Hypoalbuminemia, Ascites |
ORPHA:75565 |
Gallbladder Neuroendocrine Tumor |
|
Elevated alkaline phosphatase of hepatic origin, Weight loss, Elevated gamma-glutamyltransferase ... |
ORPHA:100086 |
Mullerian Aplasia And Hyperandrogenism |
|
Acne, Hirsutism |
OMIM:158330 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
Al Amyloidosis |
|
Elevated circulating alkaline phosphatase concentration, Weight loss, Xerostomia, Abnormal saliva... |
ORPHA:85443 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Weight loss |
ORPHA:67 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Weight loss |
ORPHA:100080 |
Ppoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Intrahepatic cholest... |
ORPHA:97278 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Cowden Syndrome |
|
Enlarged polycystic ovaries, Palmoplantar keratoderma, Adenoma sebaceum, Lipoma, Failure to thriv... |
ORPHA:201 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Recurrent skin infections, Polyhydramnios, Urinary bladder inflammation, Nail dystrophy, Enamel h... |
ORPHA:79403 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Infantile Krabbe Disease |
|
Abnormal circulating enzyme concentration or activity, Failure to thrive, Cachexia |
ORPHA:206436 |
Systemic Capillary Leak Syndrome |
|
Pancreatitis, Weight loss |
ORPHA:188 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Inguinal hernia, Recurrent pneumonia, Excessive wrinkled skin, Follicular hyperkeratosis, Palmopl... |
OMIM:225400 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Jaundice, Acute pancreatitis, Weight loss |
ORPHA:20 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Weight loss |
ORPHA:100082 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Primary testicular failure, Decreased liver function, Abnormal testis morphology, Weight loss |
ORPHA:85450 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Immunodeficiency 31C |
|
Eczema, Chronic mucocutaneous candidiasis, Weight loss, Chronic oral candidiasis, Recurrent vulvo... |
OMIM:614162 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Small nail, Supernumerary nipple |
OMIM:100300 |
8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Obesity, Weight loss |
ORPHA:251071 |
Klatskin Tumor |
|
Jaundice, Weight loss |
ORPHA:99978 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Acne, Frontal balding, Hyperkalemia, Testicul... |
ORPHA:90794 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Increased circulating lactate dehydrogenase concentration, Weight loss |
ORPHA:747 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss |
ORPHA:92050 |
Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Failure to thrive in infancy, Weight loss, Hypohidrosis, Primary hypoth... |
OMIM:219800 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Inguinal hernia, Redundant skin, Abnormality of hair texture, Abnormal eyelash morpholo... |
ORPHA:286 |
Somatostatinoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Intrahepatic cholest... |
ORPHA:97283 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Cryptorchidism, Loss of eyelashes, Thin eyebrow, Sparse hair |
ORPHA:2636 |
Q Fever |
|
Elevated hepatic transaminase, Maculopapular exanthema, Hepatitis, Weight loss |
ORPHA:781 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased circulating lactate dehydrogenase concentration, Hypothyroidism, Weight loss |
OMIM:613673 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:256700 |
Igg4-Related Retroperitoneal Fibrosis |
|
Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Weight loss, Hydrocele... |
ORPHA:49041 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
Vipoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Intrahepatic cholest... |
ORPHA:97282 |
De Sanctis-Cacchione Syndrome |
|
Bilateral cryptorchidism, Parakeratosis, Keratitis, Conjunctivitis |
OMIM:278800 |
Schwartz-Jampel Syndrome |
|
Decreased testicular size, Abnormal eyebrow morphology, Decreased body weight, Cachexia, Low ante... |
ORPHA:800 |
Seckel Syndrome |
|
Sparse scalp hair, Cachexia |
ORPHA:808 |
Mucolipidosis Type Ii |
|
Weight loss, Dry hair, White hair, Fine hair |
ORPHA:576 |
Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Erythema, Elbow flexion contracture, Joint swelling, Follicular hyperk... |
OMIM:618175 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano... |
OMIM:619381 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Weight loss, Pancreatitis, Elevated hepatic transaminase |
ORPHA:36426 |
Aicardi-Goutieres Syndrome 7 |
|
Skin rash, Chilblains, Atopic dermatitis, Hepatitis, Weight loss, Hypothyroidism |
OMIM:615846 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Weight loss, Pancreatitis, Elevated hepatic transaminase |
ORPHA:537 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatic failure, Weight loss |
ORPHA:100075 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... |
ORPHA:913 |
Ring Chromosome 13 Syndrome |
|
Alopecia, Hypoplasia of the gallbladder |
ORPHA:96176 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Weight loss, Ovarian neop... |
ORPHA:144 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Splenom... |
ORPHA:565612 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Weight loss |
ORPHA:677 |
Acute Promyelocytic Leukemia |
|
Weight loss |
ORPHA:520 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Weight loss, Ovarian neop... |
ORPHA:440437 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Uveiti... |
OMIM:186580 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocyto... |
ORPHA:391487 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Anhidrosis, Dry hair, Cachexia, Cryptorchidism, Fine hair, Malar rash |
ORPHA:191 |
Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Recurrent pneumonia, Acute myelomonocytic leukemia, Dry skin, Failur... |
ORPHA:99646 |
Focal Dermal Hypoplasia |
|
Omphalocele, Ridged nail, Inguinal hernia, Brittle hair, Supernumerary nipple, Congenital diaphra... |
OMIM:305600 |
Microsporidiosis |
|
Cachexia, Abnormality of the parathyroid gland, Hepatitis, Thyroiditis, Weight loss, Prostatitis,... |
ORPHA:2552 |
Primary Intestinal Lymphangiectasia |
|
Weight loss |
ORPHA:90362 |
Pallister-Killian Syndrome |
|
Omphalocele, Sparse scalp hair, Alopecia, Inguinal hernia, Sparse eyelashes, Edema of the dorsum ... |
OMIM:601803 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Weight loss |
ORPHA:91139 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
Whipple Disease |
|
Hypothyroidism, Cachexia |
ORPHA:3452 |
Beta-Ketothiolase Deficiency |
|
Weight loss |
ORPHA:134 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Orchitis, Pruritus, Urinary bladder inflammation... |
ORPHA:556 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Weight loss, Testicular teratoma |
ORPHA:764 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
Thymoma |
|
Weight loss |
ORPHA:99867 |
Melkersson-Rosenthal Syndrome |
|
Periorbital edema, Inflammatory abnormality of the skin, Cheilitis, Edema |
ORPHA:2483 |
Rett Syndrome |
|
Cachexia |
OMIM:312750 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Low anterior hairline, Cachexia, Abnormal hair morphology |
ORPHA:647 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Brucellosis |
|
Small for gestational age, Orchitis, Weight loss, Hyperhidrosis, Failure to thrive |
ORPHA:1304 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis, Lymphedema |
ORPHA:79280 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Hepatic failure, Weight loss |
ORPHA:100078 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Pancreatic hypoplasia, Reduced pancreatic beta cells, Weight loss |
ORPHA:99885 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:143 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss |
OMIM:607459 |
Castleman Disease |
|
Jaundice, Weight loss |
ORPHA:160 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Pituitary null cell adenoma, Elevated circulating growth hormone concen... |
ORPHA:652 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Xerostomia, Thyroiditis, Weight loss, Enlargement of parotid gland, Nod... |
ORPHA:79078 |
Pseudoxanthoma Elasticum |
|
Civatte bodies, Cutis laxa |
OMIM:264800 |
Malignant Atrophic Papulosis |
|
Weight loss |
ORPHA:679 |
Granulomatosis With Polyangiitis |
|
Prostatitis, Skin rash, Pancreatitis, Weight loss |
ORPHA:900 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Skin rash, Weight loss |
OMIM:301074 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Exocrine pancreatic insufficiency, Weight loss |
ORPHA:309031 |
Trisomy 18 |
|
Cryptorchidism, Abnormal toenail morphology, Cachexia |
ORPHA:3380 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Hashimoto thyroiditis, Cachexia |
ORPHA:109 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Behçet Disease |
|
Orchitis, Acne, Pancreatitis, Weight loss |
ORPHA:117 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Fanconi Anemia |
|
Cryptorchidism, Abnormal testis morphology, Absent testis, Weight loss |
ORPHA:84 |
Nocardiosis |
|
Weight loss, Thyroiditis, Cutaneous abscess |
ORPHA:31204 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
Choreoacanthocytosis |
|
Elevated circulating aspartate aminotransferase concentration, Abnormal erythrocyte enzyme level,... |
ORPHA:2388 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |
Multiple Myeloma |
|
Weight loss |
ORPHA:29073 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
Pulmonary Alveolar Microlithiasis |
|
Testicular microlithiasis, Weight loss |
ORPHA:60025 |
Camurati-Engelmann Disease |
|
Slender build, Cachexia, Elevated circulating aldolase concentration |
ORPHA:1328 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormal salivary gland morphology, Enlarged lacrimal glands, Weight loss |
OMIM:181000 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Juvenile Polyposis Of Infancy |
|
Cachexia |
ORPHA:79076 |
Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Skin rash, Weight loss |
ORPHA:91500 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cholelithiasis, Cachexia |
ORPHA:2072 |
Stickler Syndrome |
|
Slender build, Cachexia |
ORPHA:828 |
Norrie Disease |
|
Cryptorchidism, Failure to thrive, Cachexia |
ORPHA:649 |
Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |