Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Epidermal acanthosis, Allergic rhi... |
ORPHA:90368 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis, Milia |
OMIM:131800 |
Reticulate Acropigmentation Of Kitamura |
|
Macule, Hyperkeratosis |
OMIM:615537 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Papule |
OMIM:244850 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, ... |
ORPHA:158681 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern... |
ORPHA:79147 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hyperpigmentation, Generalized hirsutism, Delayed puberty |
ORPHA:2297 |
Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
Porokeratosis 8, Disseminated Superficial Actinic Type |
|
Porokeratosis, Papule |
OMIM:616063 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis, Skin nodule |
ORPHA:199267 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Acrokeratosis |
OMIM:101900 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Porokeratosis, Palmoplantar hyperkeratosis, Skin plaque, Annular cutaneous lesion, Hyperkeratotic... |
ORPHA:737 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Scaling skin on fingertip, Parakeratosis, Epidermal acanthosis, Alopecia, Hypergranulosis, Palmop... |
ORPHA:79395 |
Olmsted Syndrome 2 |
|
Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h... |
OMIM:619208 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Alopecia, Epidermal acanthosis, Thickened skin, Palmoplantar hyperkeratosis, Ichth... |
ORPHA:100976 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenita... |
OMIM:242300 |
Bazex Syndrome |
|
Parakeratosis, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Na... |
ORPHA:166113 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Posterior blepha... |
OMIM:300918 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis |
ORPHA:464318 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Papule, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer |
ORPHA:2337 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Erythematous plaque, Palmoplantar kerat... |
OMIM:173200 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis, Skin nodule, Verrucous papule |
ORPHA:139414 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Multiple cafe-au-lait spots, Hyperkeratosis, Papule |
ORPHA:1336 |
Psoriasis 2 |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin |
OMIM:602723 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis |
OMIM:615327 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Erythematous plaque, Scali... |
OMIM:607602 |
Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Concave nail, Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperk... |
ORPHA:530838 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Parana Hard Skin Syndrome |
|
Generalized hyperpigmentation, Short stature, Thickened skin, Growth delay, Hyperkeratosis, Gener... |
ORPHA:2812 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Gene... |
OMIM:612281 |
Dermatofibrosarcoma Protuberans |
|
Subcutaneous nodule, Thickened skin, Erythema, Skin ulcer |
ORPHA:31112 |
Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... |
ORPHA:69125 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor... |
OMIM:604777 |
Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea, Hyp... |
ORPHA:90158 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... |
ORPHA:64745 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin |
OMIM:146590 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Pru... |
ORPHA:79399 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Vulvovaginal Gingival Syndrome |
|
Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema |
ORPHA:83453 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly, Ichthyosis |
ORPHA:2274 |
Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy... |
OMIM:615821 |
Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital bullous... |
OMIM:113800 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Epidermal acanthosis, Scaling skin |
OMIM:617115 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Erythema, Hypopigmented skin patches, Skin ulcer, Skin plaque, Lympha... |
ORPHA:2584 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Scleroderma, Inflammatory abnormality of the skin, Linear hyperpigmentation |
ORPHA:140933 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Perifollicular hyperkeratosis, Spars... |
ORPHA:505 |
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration |
|
Hepatosplenomegaly, Ichthyosis |
OMIM:242520 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis, Papule |
ORPHA:315 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Pruritus, Palmoplanta... |
ORPHA:89838 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Acral Peeling Skin Syndrome |
|
Eczema, Erythema, Scaling skin, Ichthyosis, Hyperpigmentation of the skin, Excessive wrinkling of... |
ORPHA:263534 |
Ichthyosis With Confetti |
|
Short stature, Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Hypoplastic nippl... |
OMIM:609165 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ich... |
OMIM:607936 |
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 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:615028 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k... |
ORPHA:2897 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I... |
ORPHA:79503 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
White Sponge Nevus 2 |
|
Hyperparakeratosis, Epidermal acanthosis |
OMIM:615785 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke... |
ORPHA:79151 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis, Subcutaneous nodule |
OMIM:618339 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoder... |
ORPHA:312 |
Sézary Syndrome |
|
Hepatomegaly, Alopecia, Pruritus, Splenomegaly, Tremor, Lymphadenopathy, Palmoplantar keratoderma... |
ORPHA:3162 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Cutis laxa, Absent pubic hair,... |
ORPHA:2269 |
Netherton Syndrome |
|
Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Eczema, Allergic rhini... |
OMIM:256500 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Pustule, Erythema, Oli... |
OMIM:614204 |
Spinocerebellar Ataxia 34 |
|
Ataxia, Epidermal hyperkeratosis, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochok... |
OMIM:133190 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Pruritu... |
OMIM:607626 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Keratitis, Pruritus, Ichthyosis, Palmoplantar keratoderma, Erythroderma, Failure to thr... |
ORPHA:79394 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
Ulerythema Ophryogenesis |
|
Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat... |
ORPHA:3406 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat... |
OMIM:616295 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Alopecia, Eosinophilia, Pneumonia, Pruritus, Thickened skin, Leu... |
ORPHA:39041 |
Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis, Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkerato... |
OMIM:608649 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... |
ORPHA:87503 |
Acrokeratoelastoidosis Of Costa |
|
Yellow papule, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Skin plaqu... |
ORPHA:38 |
Darier Disease |
|
Hypermelanotic macule, Acrokeratosis, Abnormal hair morphology, Pruritus, Thickened skin, Abnorma... |
ORPHA:218 |
Erythrokeratodermia Variabilis |
|
Alopecia, Short stature, Skin rash, Hypermelanotic macule, Abnormal hair morphology, Erythema, Pa... |
ORPHA:317 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the... |
ORPHA:79397 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Hypermelanotic macule, Dry skin, Palmoplantar keratoderma, Hypomelanotic macule, Scalin... |
OMIM:618373 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thickene... |
OMIM:603554 |
Dowling-Degos Disease 4 |
|
Pruritus, Epidermal acanthosis, Hypergranulosis |
OMIM:615696 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Short stature, Thin nail, Absent eyelashes, Hyperkeratosis, Sparse hair, Nail dys... |
OMIM:618625 |
Necrobiosis Lipoidica |
|
Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atrophic scars, Granuloma, Annular cutaneous... |
ORPHA:542592 |
Peeling Skin Syndrome 3 |
|
Pruritus, Erythema, Abnormal hair morphology, White scaling skin |
OMIM:616265 |
Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk... |
ORPHA:498359 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Alopecia, Erythroderma, Palmoplantar keratoderma, Conjunctivitis, ... |
OMIM:242150 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N... |
OMIM:212360 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali... |
OMIM:133200 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Proliferating Trichilemmal Cyst |
|
Epidermoid cyst, Skin ulcer |
ORPHA:492 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis,... |
OMIM:145250 |
Elastosis Perforans Serpiginosa |
|
Skin-colored papule, Cutis laxa, Hyperkeratotic papule, Erythematous papule, Serpiginous cutaneou... |
ORPHA:79148 |
Familial Keratoacanthoma |
|
Papule, Hyperkeratosis, Subcutaneous nodule, Skin ulcer |
ORPHA:493 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Scaling skin, Nail dystrophy, Spar... |
OMIM:604536 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Parakeratosis, Pancytopenia, Aplastic anemia, He... |
ORPHA:398124 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp... |
OMIM:607903 |
Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis, Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, ... |
ORPHA:2199 |
Atrophoderma Vermiculata |
|
Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule |
ORPHA:79100 |
Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
Lichen Planopilaris |
|
Hypopigmented skin patches, Skin ulcer, Hepatitis, Hyperkeratosis, Dermal atrophy, Papule |
ORPHA:525 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Short stature, Fine hair, Melanocytic nevus, Hyperkeratosis, Fre... |
ORPHA:1573 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Erythroderma, Hypergranulosis, Ichthyosis |
OMIM:615022 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Chronic rhinitis, ... |
OMIM:615225 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... |
ORPHA:454 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Alopecia, Erythroderma, Ichthyosis |
OMIM:618840 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Hypopigmented streaks, Conjunctivitis, Skin vesicle, Blepharitis, Abnor... |
ORPHA:254478 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Scaling skin, Depigmentation/hyperpigmentation ... |
ORPHA:90283 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati... |
ORPHA:79481 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Netherton Syndrome |
|
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology,... |
ORPHA:634 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp... |
OMIM:617294 |
Lamellar Ichthyosis |
|
Pruritus, Hyperkeratosis, Ichthyosis, Sparse hair, Erythroderma, Chronic otitis media, Abnormalit... |
ORPHA:313 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Cheilitis, Eosinop... |
ORPHA:293173 |
Chilblain Lupus |
|
Hyperkeratosis, Erythematous papule, Skin ulcer, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Eosinophilic i... |
OMIM:615508 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Scali... |
ORPHA:454831 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera... |
ORPHA:2722 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Hepatitis, Eryth... |
OMIM:304790 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Chromomycosis |
|
Erythematous macule, Hyperparakeratosis, Subcutaneous nodule, Verrucous papule, Hypopigmented ski... |
ORPHA:182 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Growth delay, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythro... |
OMIM:614457 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, Neutropenia, Lymphadenopathy... |
OMIM:150550 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Thickened skin, Hyperkeratosis, Skin erosion, Skin plaque, Papule |
OMIM:247100 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Skin ... |
ORPHA:507 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... |
OMIM:606367 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Subcutaneous nodule, Hyperkeratosis, Atrophic scars, Dermal atrophy, Skin plaque, Milia, Papule |
ORPHA:89843 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic ... |
OMIM:148700 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis... |
ORPHA:169160 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Short stature, Pruritus, Onycholysis, Scaling skin, Nail dystrophy, Erythroderma |
OMIM:270300 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Hyperkeratosis, Dry skin, Ichthyosis |
ORPHA:461 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections, Abnormal hair morphology |
ORPHA:345 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Failure to thrive, Ichthyosis |
ORPHA:1954 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Pruritus, Thickened skin, Abnormality of the spleen, Erythroderma, Lymphadenopathy,... |
ORPHA:79456 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Epidermal acanthosis, Angular cheilitis, Sparse eyelashes, Sparse axillary hai... |
OMIM:613102 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Hypermelanotic macule, Pruritus, Thickened skin, Erythema, Scaling skin,... |
ORPHA:79455 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair, Ichthyosis |
ORPHA:91132 |
Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... |
OMIM:613953 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Small for gestational age, Trichoschisis, Flexion contracture, Absence of subcutane... |
OMIM:601675 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of C... |
ORPHA:169154 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin |
OMIM:618527 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... |
ORPHA:139402 |
Dowling-Degos Disease |
|
Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin... |
ORPHA:79145 |
Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... |
ORPHA:477 |
Congenital Disorder Of Glycosylation, Type If |
|
Ataxia, Flexion contracture, Hyperkeratosis, Hypertonia, Erythroderma, Failure to thrive |
OMIM:609180 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... |
ORPHA:79153 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... |
OMIM:615023 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia, Short stature |
ORPHA:2574 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... |
OMIM:224750 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia, Palmoplantar hyperkeratosis |
OMIM:309560 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
Familial Benign Chronic Pemphigus |
|
Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion |
ORPHA:2841 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Punctate palmoplantar hyperkeratosis, Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail d... |
OMIM:131960 |
Basan Syndrome |
|
Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy, Hypermelanotic macule |
OMIM:129200 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr... |
ORPHA:399805 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato... |
OMIM:617525 |
Cole Disease |
|
Hypopigmented macule, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:615522 |
Kerion Celsi |
|
Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ... |
ORPHA:499 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Erythema, Hype... |
ORPHA:816 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Juvenile Hyaline Fibromatosis |
|
Subcutaneous nodule, Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:2028 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ja... |
ORPHA:540 |
Ichthyosis Vulgaris |
|
Eczematoid dermatitis, Absent keratohyalin granules, Dry skin, Ichthyosis |
OMIM:146700 |
Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash |
ORPHA:163525 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Palmoplantar hyperkeratosi... |
OMIM:605676 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis |
OMIM:610227 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Hepatosplenomegaly, Erythematous plaque, Hemophagocytosis, Erythematous papule |
ORPHA:86884 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Palmoplantar keratoderm... |
OMIM:618535 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Progressive hyperpigmentation, Epidermal acanthosis, Eczema, Allerg... |
ORPHA:330064 |
Harlequin Ichthyosis |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis |
ORPHA:457 |
Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin |
ORPHA:1114 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Splenomegaly, Lymphadenitis, Leukocytosis, C... |
OMIM:615895 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Skin ulcer, Leukopenia, Aplasia/Hypoplasia of the thymus, Anemia |
ORPHA:33355 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Erythroderma, Pruritus |
ORPHA:280785 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Paronychia, Erythroderma, Failure to thrive, Blepharitis, Onychogryposis |
OMIM:614328 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased ... |
OMIM:619510 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hyperkerat... |
OMIM:602400 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Pustule, Overweight, Leukocytosis, Cheilitis, Uveitis, Obesity, Ar... |
ORPHA:247353 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythema, Follicu... |
OMIM:308800 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma, Failure to thrive |
OMIM:227090 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy |
OMIM:616487 |
Irida Syndrome |
|
Hyperkeratosis, Intrahepatic cholestasis, Pallor, Ichthyosis |
ORPHA:209981 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis |
OMIM:148600 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Growth delay, Abnormality of skin pigmentation, Palmoplantar keratode... |
ORPHA:79402 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Subcutaneous nodule, Skin ulcer |
ORPHA:231 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythem... |
ORPHA:346 |
Centrifugal Lipodystrophy |
|
Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Erythema, Scaling skin |
ORPHA:90156 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Gen... |
ORPHA:2890 |
Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... |
ORPHA:2200 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sclerodactyly, Sparse eyebrow, ... |
ORPHA:1010 |
Prolidase Deficiency |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Erythema, Skin ulcer, Hyperkeratosis,... |
ORPHA:742 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... |
ORPHA:59303 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Short stature, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, ... |
ORPHA:158668 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, G... |
OMIM:242100 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Severe short stature, Hyperpigmentation of the skin, Hypopigmented skin patches, Palmop... |
ORPHA:2251 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Psoriasiform lesion, Short stature, Eczema, Allergic rhini... |
OMIM:618131 |
Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Dry skin, Scaling skin |
OMIM:612952 |
Keratoderma Hereditarium Mutilans |
|
Hypogonadotropic hypogonadism, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis,... |
ORPHA:494 |
Chilblain Lupus 1 |
|
Skin ulcer |
OMIM:610448 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Thrombocytosis, Steril... |
OMIM:604416 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Th... |
ORPHA:229717 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont... |
ORPHA:35173 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Pruritus, Dry skin, Scaling skin |
OMIM:105250 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob... |
ORPHA:90039 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Cutis laxa, Abnormality of skin pigmentation, Hyperkeratosis, Ichthyosis, Dry skin, Hyper... |
OMIM:612379 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Proteus Syndrome |
|
Epidermal nevus, Splenomegaly, Hyperkeratosis, Nevus, Lymphangioma |
OMIM:176920 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Darier-White Disease |
|
Ridged nail, Hypermelanotic macule, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratot... |
OMIM:124200 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm... |
OMIM:144200 |
Trichothiodystrophy |
|
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Multiple joint contractures, Abno... |
ORPHA:33364 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Ataxia, Sparse eyebrow, Nail dystrophy, Ichthyosis, Sparse hair, Tiger tail banding |
OMIM:619692 |
Meige Disease |
|
Absence of lymph node germinal center, Skin ulcer, Atypical scarring of skin, Lymph node hypoplas... |
ORPHA:90186 |
Ollier Disease |
|
Anemia, Lymphangioma, Subcutaneous nodule, Skin ulcer |
ORPHA:296 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Interphalangeal joint contracture of finger, Widow's peak, Atopic dermatitis, Knee flexion contra... |
OMIM:606242 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Perifolliculitis, Alopecia of scalp |
OMIM:260910 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Skin ulcer |
ORPHA:217390 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Alopecia, Epidermal acanthosis, Short stature, Erythema, Hyperkeratosis, Mild intr... |
OMIM:308050 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura |
ORPHA:743 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Sparse eyebrow, Congenital ichthyosiform erythroderma, Patchy alopecia, Congeni... |
OMIM:302960 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion, Short stature |
OMIM:616298 |
Leopard Syndrome 3 |
|
Few cafe-au-lait spots, Curly hair, Short stature, Epidermal hyperkeratosis, Low posterior hairli... |
OMIM:613707 |
Acrogeria |
|
Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer |
ORPHA:2500 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Dermatitis, Atopic |
|
Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic dermatitis, Facial erythem... |
OMIM:603165 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Chilblains, Tremor, Splenomegaly, Rigidity, Dystonia, Loss of amb... |
OMIM:615010 |
Sandhoff Disease, Adult Form |
|
Reduced beta-hexosaminidase activity, Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dyston... |
ORPHA:309169 |
Acral Self-Healing Collodion Baby |
|
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer |
ORPHA:139578 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule, Scarring alopecia of scalp, Erythema, Abnormal hair morphology |
ORPHA:222 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Short stature, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Spa... |
OMIM:129500 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Erythroderma |
OMIM:610163 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Porphyria Cutanea Tarda, Type I |
|
Eczema, Hyperpigmentation of the skin, Hypertrichosis |
OMIM:176090 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Alopecia of scalp, Ataxia |
OMIM:136300 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Cardiomegaly, Follicular hyperkeratosis, Congenital bullous ichthyosifo... |
OMIM:613576 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Epidermal acanthosis, Short stature, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, An... |
OMIM:616029 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s... |
OMIM:617337 |
Free Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Ascites, Skin ulcer |
ORPHA:834 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Hyperkeratosis, Keratoconjunctiviti... |
ORPHA:238468 |
Pyoderma Gangrenosum |
|
Skin ulcer, Atrophic scars, Skin vesicle, Myeloid leukemia, Papule |
ORPHA:48104 |
Chronic Mucocutaneous Candidiasis |
|
Dyspareunia, Erythema, Hepatitis, Skin ulcer, Hyperkeratosis, Papule |
ORPHA:1334 |
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, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythem... |
OMIM:612843 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... |
OMIM:606545 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Short stature, Abnormal fingernail morphology, Skin ulcer, Fine hair, Abnormality of skin pigment... |
ORPHA:1806 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Inguinal hernia, Ataxia, Cryptorchidism, Fine hair, Gait disturbance, Sparse hair |
ORPHA:1174 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Noonan Syndrome 8 |
|
Curly hair, Short stature, Eczema, Patent ductus arteriosus, Hyperkeratosis, Palmoplantar cutis l... |
OMIM:615355 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Small for gestational age, Ataxia, Decreased response to growth hormone stimulation tes... |
ORPHA:3363 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Mediastinal lymphadenopathy, Splenomegaly, Skin ulcer, Abnormality... |
ORPHA:91138 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers... |
ORPHA:1008 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Abnormal circulating enzyme concentration or activity, Tremor, Inability to walk, ... |
ORPHA:2590 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus, Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... |
OMIM:615513 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... |
ORPHA:70578 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Viral hepatitis, Hyperpigmentation of the skin, Hypertrichos... |
ORPHA:101330 |
Chronic Granulomatous Disease |
|
Macule, Hepatomegaly, Liver abscess, Hypermelanotic macule, Abnormality of neutrophils, Mediastin... |
ORPHA:379 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Thickened skin, Erythema, Skin ulcer, Palmoplantar keratoderma, Skin fissure |
ORPHA:659 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Hepatosplenomegaly... |
ORPHA:3260 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... |
ORPHA:294023 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Severe short stature, Hypermelanotic macule, Keratitis, Conjunctivitis |
OMIM:278800 |
Copper Deficiency, Familial Benign |
|
Curly hair, Seborrheic dermatitis, Early balding, Failure to thrive, Anemia |
OMIM:121270 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis, Osteomyelitis |
OMIM:615632 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615735 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Long ... |
OMIM:275400 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Short stature, Hyperkeratosis, Coarse hair, Sparse hair |
ORPHA:1883 |
Spinocerebellar Ataxia 37 |
|
Tremor, Unsteady gait, Frequent falls, Ataxia |
OMIM:615945 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Thrombocytopenia, Abnormality ... |
ORPHA:47 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Pallor,... |
OMIM:615234 |
Mednik Syndrome |
|
Hyperkeratosis, Intrahepatic cholestasis, Ichthyosis |
ORPHA:171851 |
Syndromic Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Acute leukemia, Hyperkeratosis, Hypogonadism, Ichthyosis, Testicular seminoma |
ORPHA:281090 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Short stature, Skin rash, Sparse eyebrow, Recurrent pneumonia, Reticular ... |
OMIM:604173 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Abnormal ... |
ORPHA:678 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Eczema, Head titubation, Sparse eyebrow, Trichorrhexis nodosa, Babinski sign, Spastic diplegia, A... |
OMIM:619691 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Thickened skin, Ocular albinism, Hyperkeratosis, Freckling, H... |
ORPHA:79431 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Abnormality of ... |
ORPHA:178320 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecz... |
ORPHA:83617 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Ataxia, Poor motor coordination, Reduced intra... |
ORPHA:363400 |
Brooke-Spiegler Syndrome |
|
Skin-colored papule, Skin nodule, Skin ulcer, Nodular changes affecting the eyelids |
ORPHA:79493 |
Prolidase Deficiency |
|
Hepatomegaly, Petechiae, Thrombocytopenia, Splenomegaly, Skin ulcer, Prolonged neonatal jaundice,... |
OMIM:170100 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Broad-based gait, Small for gestational age, Eczema, Synophrys, Achilles tendon contracture, Hype... |
OMIM:611091 |
Reynolds Syndrome |
|
Hepatomegaly, Jaundice, Skin ulcer, Cirrhosis, Ascites, Sclerodactyly |
ORPHA:779 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Scaling skin, Periungual erythema, Atrichia, Neonatal death, Dystrophic ... |
OMIM:308205 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Psoriasiform lesion, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronch... |
OMIM:614700 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Lipoid Proteinosis |
|
Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp |
ORPHA:530 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Incontinentia Pigmenti |
|
Ridged nail, Uveitis, Abnormality of skin pigmentation, Coarse hair, Pallor, Sparse hair, Atrophi... |
OMIM:308300 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Limited Cutaneous Systemic Sclerosis |
|
Hypopigmented skin patches, Skin ulcer |
ORPHA:220402 |
Bazex-Dupre-Christol Syndrome |
|
Hyperpigmentation of the skin, Eczema, Trichorrhexis nodosa, Atopic dermatitis, Coarse hair, Spar... |
OMIM:301845 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Pachydermoperiostosis |
|
Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Acne, Cerebral palsy, Elevated circulating g... |
ORPHA:2796 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Mpdu1-Cdg |
|
Eczema, Scaling skin, Ichthyosis |
ORPHA:79323 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Phenylketonuria |
|
Eczema, Blue irides, Dry skin, Generalized hypopigmentation, Fair hair, Scleroderma |
OMIM:261600 |
Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spastici... |
OMIM:616719 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Pachyonychia Congenita 2 |
|
Subungual hyperkeratosis, Sparse scalp hair, Dry hair, Angular cheilitis, Sparse eyebrow, Palmopl... |
OMIM:167210 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... |
ORPHA:39812 |
Pemphigus Erythematosus |
|
Malar rash, Hypopigmented skin patches, Acantholysis |
ORPHA:79480 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pyoderma gangrenosum, Acute lymphoblastic ... |
ORPHA:486 |
Lymphatic Malformation 4 |
|
Hydrocele testis, Hyperkeratosis |
OMIM:615907 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... |
ORPHA:216873 |
Ramon Syndrome |
|
Hyperkeratosis, Abnormality of retinal pigmentation, Generalized hirsutism |
ORPHA:3019 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Lipoatrophy, Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body h... |
ORPHA:1818 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Seborrheic dermatitis, Hyperparakeratosis, Abnormality of the lymphatic system, Hydr... |
ORPHA:276280 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Acanthosis nigricans, Hepatic... |
OMIM:612526 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis,... |
OMIM:610768 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Progressive spastic quadriplegia, Dec... |
ORPHA:2985 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia |
OMIM:616576 |
Familial Multiple Nevi Flammei |
|
Nevus flammeus, Skin ulcer, Hypermelanotic macule, Papule |
ORPHA:624 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Ataxia, Postural tremor, Limb joint contracture, Seborrheic dermatitis, Splenomegal... |
OMIM:301072 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Skin ulcer, Lymphadenopathy |
ORPHA:424019 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Acquired Purpura Fulminans |
|
Macule, Erythematous macule, Pyoderma gangrenosum, Macular purpura, Thrombocytopenia |
ORPHA:49566 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Obesity, Sparse body hair |
ORPHA:85274 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Hepatic cysts, Erythroderma |
OMIM:617425 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Ataxia, Seborrheic dermatitis, Sple... |
OMIM:253260 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry... |
ORPHA:1028 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Increased int... |
ORPHA:276435 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Bronchiectasis, Reticular hyperpigmentation, Generalized reticulate brown pi... |
OMIM:301220 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail |
OMIM:181600 |
Werner Syndrome |
|
Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Secondary amenorrhea, Skin ulcer, Decrea... |
ORPHA:902 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasticity |
OMIM:615924 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bra... |
ORPHA:521406 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Ichthyosis, Decreased C... |
OMIM:618495 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... |
OMIM:616099 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... |
ORPHA:363710 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal fingernail morphology, Eczema, Abnormality of skin pigmentation, Sparse hair, Sparse bod... |
ORPHA:1810 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Truncal obesity, Sparse body hair, Failure to thrive, Decreased testicular size |
ORPHA:261483 |
Takayasu Arteritis |
|
Anemia, Subcutaneous nodule, Skin ulcer |
ORPHA:3287 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Pachyonychia Congenita 1 |
|
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis |
OMIM:167200 |
Recon Progeroid Syndrome |
|
Short stature, Hyperconvex thumb nails, Absent lower eyelashes, Growth delay, Keratoconjunctiviti... |
OMIM:620370 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Failure to thrive, Hypopigmentation of hair, Ataxia, Tremor, Polyc... |
ORPHA:100 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Short stature, Eczema, Ichthyosis |
ORPHA:3055 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Epidermal acanthosis, Thyroiditis, Palmoplantar hyperkeratosis, Uveitis, Growth delay, Keratoconj... |
OMIM:617388 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Sialidosis Type 1 |
|
Ataxia, Tremor, Splenomegaly, Slurred speech, Hyperkeratosis, Gait disturbance, Myoclonus, Hernia |
ORPHA:812 |
Papa Syndrome |
|
Skin ulcer, Lymphadenopathy |
ORPHA:69126 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Patent ductus arteriosus... |
OMIM:614576 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle |
ORPHA:721 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair, Abnormal odontoid tissue morphology |
ORPHA:401911 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hepatitis, In... |
ORPHA:158061 |
Costello Syndrome |
|
Deep-set nails, Generalized hyperpigmentation, Short stature, Redundant skin, Abnormal fingernail... |
ORPHA:3071 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Acantholysis, Pustule, Pruritus, Ulcerative colitis, Skin ... |
ORPHA:555905 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Erythematous macule, Hepatomega... |
OMIM:615559 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Skin erosion, Localized skin lesion, Erythematous papule, Atypical scarring of skin, Atrophic sca... |
ORPHA:79410 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
Dyskeratosis Congenita |
|
Macule, Hepatomegaly, Neoplasm of the pancreas, Aplasia/Hypoplasia of the skin, Hypermelanotic ma... |
ORPHA:1775 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Skin ulcer |
ORPHA:2218 |
Polyarteritis Nodosa |
|
Erythema, Subcutaneous nodule, Skin ulcer |
ORPHA:767 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Pachyonychia Congenita |
|
Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp... |
ORPHA:2309 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Brittle hair, Small for gestational age, Chronic hepatitis, Colitis, Uncombable hai... |
OMIM:614602 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Erythema, Malar rash,... |
ORPHA:330058 |
Flynn-Aird Syndrome |
|
Dermal atrophy, Skin ulcer |
ORPHA:2047 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Myositis, Failure to thrive, Skin rash, Follicular hyperplasia, Pu... |
OMIM:615934 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia |
OMIM:612126 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Subcutaneous nodule, Hepa... |
OMIM:612840 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Hir... |
OMIM:610185 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Subcutaneous nodule, Skin ul... |
ORPHA:228119 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Failure to thrive in infancy, Pustule, Sple... |
OMIM:612852 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse... |
OMIM:601214 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Atrophic scars, Follicular hyperkeratosis |
ORPHA:300179 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronch... |
OMIM:618282 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Iridocycliti... |
ORPHA:85436 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Chronic m... |
ORPHA:98813 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Urticarial plaque, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, S... |
OMIM:615688 |
Superficial Epidermolytic Ichthyosis |
|
Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis |
ORPHA:455 |
Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer |
OMIM:604571 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Sple... |
OMIM:602450 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Acantholysis |
ORPHA:704 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia |
OMIM:613313 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Hyperkeratosis, Alopecia, Fine hair |
ORPHA:1839 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
Monosomy 22 |
|
Aplasia of the thymus, Seborrheic dermatitis, Thickened skin, Synophrys, Hypochromic microcytic a... |
ORPHA:96123 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A... |
OMIM:602390 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Acantholysis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis |
OMIM:609638 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Infantile Systemic Hyalinosis |
|
Thickened skin, Subcutaneous nodule, Aplasia/Hypoplasia of the thymus, Skin ulcer |
ORPHA:2176 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormality of retinal pigmentation, Severe short stature, Abnormal eyelash morphol... |
ORPHA:2526 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Recurrent loss of toenails and fingernails, Erythema, Crusting erythematous dermatitis, Palmoplan... |
ORPHA:158673 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Abs... |
OMIM:148210 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Myocarditis, Pancreatitis, Septic a... |
ORPHA:544482 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis... |
ORPHA:79501 |
Donohue Syndrome |
|
Hypermelanotic macule, Postnatal growth retardation, Hyperkeratosis, Nail dysplasia, Acanthosis n... |
OMIM:246200 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Immunodeficiency 62 |
|
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Flexion contracture, Ichthyosis, Sparse body hair, Aplasia/Hypoplasi... |
ORPHA:2850 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... |
ORPHA:454887 |
Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
Schnitzler Syndrome |
|
Macule, Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia, Papule |
ORPHA:37748 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Eczematoid dermatitis, Absent circulating B cells, Failure to thrive, Thro... |
OMIM:619693 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Hyperkeratosis, Abnormality of ext... |
ORPHA:79279 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Subcutaneous nodule, Sea-blue... |
ORPHA:158029 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Atrophic scars, Sparse hair, Distichiasis, Sparse latera... |
ORPHA:79133 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
Glutathionuria |
|
Eczema, Tremor, Reduced gamma-glutamyltransferase level, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Tremor, Inability to w... |
OMIM:617988 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Membranoproliferative glomerulonephritis, Sparse eyelashes, Sparse scal... |
OMIM:137940 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Subcutaneous nodule, Skin ulcer |
ORPHA:2591 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin, Erythema |
ORPHA:90160 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomeg... |
ORPHA:2930 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, T lymphocytopenia... |
OMIM:300400 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Pancreatic steatosis, Hernia, Neutropenia, Sparse hair, Amelogenesis imperfecta,... |
OMIM:617052 |
Incontinentia Pigmenti |
|
Uveitis, Abnormality of skin pigmentation, Abnormal toenail morphology, Infectious encephalitis, ... |
ORPHA:464 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Skin nodule, Mediastinal lymphadenopathy, Lymphaden... |
ORPHA:545 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Curly hair, Short stature |
OMIM:615279 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Decreased body weight, Akinesia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly... |
OMIM:608013 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Livedoid Vasculopathy |
|
Pancytopenia, Leukocytosis, Skin ulcer, Atrophic scars, Macular purpura, Ecchymosis, Erythematous... |
ORPHA:542643 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Erythema Nodosum, Familial |
|
Erythema nodosum, Erythema |
OMIM:132990 |
Filippi Syndrome |
|
Dystonia, Cryptorchidism, Decreased body weight, Sparse hair, Frontal hirsutism, Hypertrichosis |
OMIM:272440 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Gonadal dysgenesis... |
OMIM:611926 |
Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... |
OMIM:301082 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Recurrent pneumonia, Epidermal acanthosis, Long eyelashes |
OMIM:616069 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:1657 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Eczema, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cryptorchidism, ... |
ORPHA:3051 |
Hawkinsinuria |
|
Sparse hair, Failure to thrive, Fine hair |
ORPHA:2118 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines... |
OMIM:613280 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Skin vesicle, Skin ulcer, Eosinophilia, Papule |
ORPHA:2314 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... |
ORPHA:3243 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, L... |
OMIM:617591 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormal circulating enzyme concentration or activity, Ataxia, Tremor, Chorea, Unsteady gait, Dys... |
ORPHA:79263 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Ankle flexion contracture, Tremor, Splenomeg... |
OMIM:608799 |
Hatipoglu Immunodeficiency Syndrome |
|
Fair hair, Eczema, Proportionate short stature, Hyperpigmented/hypopigmented macules, Thickened s... |
OMIM:620331 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Ataxia, Hepatic necrosis, Nail pits, Anemia, Leukopenia, ... |
OMIM:127550 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Severe short stature, Moderate postnatal growth retardation, Hyperkeratosis, Ichthyosis... |
ORPHA:1005 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... |
ORPHA:129 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertension, Th... |
ORPHA:824 |
Milroy Disease |
|
Toenail dysplasia, Hyperkeratosis, Erysipelas |
ORPHA:79452 |
Toxic Epidermal Necrolysis |
|
Macule, Acantholysis, Thrombocytopenia, Erythema, Skin ulcer, Neutropenia, Pancreatitis, Anemia |
ORPHA:537 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Bronchiectasis, Sparse hair, Aspiration pneumonia, Neutropenia, Loss o... |
OMIM:618253 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d... |
OMIM:615726 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum, Anemia |
OMIM:608068 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair, Decreased body weight |
OMIM:618724 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration |
OMIM:613115 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Ataxia, Inability to walk, Dysmetria, Sparse hair, Dystonia, Oculomotor apraxia, Spasticity, Hirs... |
OMIM:618087 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Eczema, Lack of skin elasticity, Growth delay, Hypopigmentation of the ... |
ORPHA:79254 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Abnormal hair morphology, General... |
ORPHA:2963 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Erythema, Septic arthritis |
ORPHA:36237 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
Leprosy |
|
Urticarial plaque, Hypopigmented macule, Abnormality of the spleen, Skin nodule, Testicular mass,... |
ORPHA:548 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly, Pallor, Purpura |
OMIM:254450 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Short stature, Redundant skin, Slow-growing hair, Generalized hyperpigmentation, Ab... |
ORPHA:1340 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Small for gestational age, Sparse facial hair, Sparse axillary hair, Congenital generalized lipod... |
OMIM:608154 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... |
ORPHA:277 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocyto... |
OMIM:246400 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, P... |
ORPHA:79083 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Kinetic tremor, Small for gestational age, Cryptorchidism, Gait ataxia, Fine hair, Truncal ataxia... |
OMIM:616817 |
Ifap Syndrome 2 |
|
Ichthyosis follicularis, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctiviti... |
OMIM:619016 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Ataxia, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, Failure to thrive |
OMIM:616353 |
Restrictive Dermopathy 1 |
|
Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Absent eyelashes, Sparse eyebrow, Patent ... |
OMIM:275210 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla... |
ORPHA:202 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Throm... |
OMIM:619463 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Subcutaneous nodule, Lymphadenopathy, Annular cutaneous lesion, B lympho... |
OMIM:618048 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
Fanconi Anemia, Complementation Group S |
|
Ataxia, Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Sparse hair, ... |
OMIM:617883 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Nail dysplasia, Delayed puberty, Erysip... |
OMIM:615704 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Gm1 Gangliosidosis |
|
Tremor, Decreased beta-galactosidase activity, Decerebrate rigidity, Aspiration pneumonia, Infect... |
ORPHA:354 |
Malakoplakia |
|
Abnormality of the menstrual cycle, Follicular hyperplasia, Orchitis, Subcutaneous nodule, Skin u... |
ORPHA:556 |
Restrictive Dermopathy |
|
Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl... |
ORPHA:1662 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... |
ORPHA:906 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Cerebral palsy, Seborrheic dermatitis, Opisthotonus, Propionyl-CoA carboxylase deficien... |
OMIM:210210 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Congenital nonbullous ichthy... |
ORPHA:85212 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... |
OMIM:616005 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes |
OMIM:227260 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Short stature, Eczema, Hyperkeratosis, Loose anagen hair, Long eye... |
OMIM:607721 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, X... |
ORPHA:2348 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Hereditary Acrokeratotic Poikiloderma |
|
Erythema, Hypopigmented skin patches, Skin ulcer, Palmoplantar hyperkeratosis, Thin skin, Ichthyo... |
ORPHA:2907 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Erythema |
ORPHA:90159 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Follicular hyperkeratosis, Delayed puberty |
ORPHA:486815 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Broad-based gait, Brittle hair, Slow-growing hair, Sparse eyebrow, Gait ataxia, Reduced hair sulf... |
OMIM:300953 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerato... |
OMIM:158310 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Growth delay, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Sparse scalp hair |
ORPHA:2611 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive |
ORPHA:477673 |
Lymphatic Malformation 12 |
|
Hydrocele testis, Hyperkeratosis, Fetal ascites |
OMIM:620014 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Limb joint contracture, Tremor, Inability to walk, ... |
OMIM:617013 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Short stature, Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Frontal upsweep of hair,... |
OMIM:618419 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Clonus, Tremor, Splenomegaly, Leukocytosis, ... |
OMIM:615673 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Thickened skin... |
ORPHA:436252 |
Typhoid |
|
Hepatomegaly, Skin rash, Ataxia, Tremor, Splenomegaly, Hypertonia, Infectious encephalitis |
ORPHA:99745 |
Keratolytic Winter Erythema |
|
Pustule, Erythema |
ORPHA:50943 |
Behr Syndrome |
|
Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Unsteady gait, Dysmetria, Adductor lo... |
OMIM:210000 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Ataxia, Tremor, Splenomegaly, Flexion contracture, Umbilical hernia |
ORPHA:87876 |
Calciphylaxis |
|
Skin ulcer |
ORPHA:280062 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Tyrosinemia Type 2 |
|
Ataxia, Tremor, Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail |
ORPHA:28378 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... |
OMIM:261640 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Acne, Hirsutism |
OMIM:604931 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia |
ORPHA:397596 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia |
OMIM:601457 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Mycetoma |
|
Abdominal mass, Pelvic mass, Subcutaneous nodule, Abnormality of the lymphatic system, Cobbleston... |
ORPHA:2583 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Microscopic Polyangiitis |
|
Peritonitis, Erythema, Subcutaneous nodule, Skin ulcer, Pancreatitis |
ORPHA:727 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Thrombocytopenia, Ichthyosis, Increased circulating lactate dehydr... |
OMIM:185070 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Skin rash, Small for gestational age, Pruritus, Tremor, Jaundice, ... |
ORPHA:69665 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Hyperkeratosis with erythema, Coarse hair, Moderate postnatal growth retardation |
OMIM:118650 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Trichodental Dysplasia |
|
Brittle hair, Slow-growing hair, Odontodysplasia, Fine hair, Sparse hair |
OMIM:601453 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Thickened skin, Acne, Seborrheic dermatitis |
OMIM:614441 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Epidermodysplasia Verruciformis |
|
Recurrent skin infections, Seborrheic dermatitis, Pustule, Hypopigmented skin patches, Multiple c... |
ORPHA:302 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Riddle Syndrome |
|
Short stature, Pneumonia, Erythema, Recurrent pneumonia, Arthritis, Scaling skin, Otitis media, R... |
ORPHA:420741 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Petechiae, Splenomegaly, Anemia, Purpura |
OMIM:620296 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia |
ORPHA:163596 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Lelis Syndrome |
|
Yellow nails, Absent lower eyelashes, Palmoplantar hyperkeratosis, Sparse hair, Nail dystrophy, A... |
ORPHA:140936 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Acanthosis nigricans, Sparse hair, Elevated hepatic transaminase, Polycystic ovaries |
OMIM:268020 |
Fucosidosis |
|
Hepatomegaly, Lipoatrophy, Abnormality of the gallbladder, Abnormal pyramidal sign, Spastic tetra... |
ORPHA:349 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
Diffuse Cutaneous Systemic Sclerosis |
|
Dyspareunia, Skin ulcer |
ORPHA:220393 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Eczema, Postnatal growth retardation, Thyroiditis, Delayed puberty |
OMIM:618985 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Stuve-Wiedemann Syndrome 2 |
|
Neonatal death, Intrauterine growth retardation, Stillbirth, Eczema |
OMIM:619751 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Short stature, Hirsutism, Acne |
OMIM:612847 |
Atelis Syndrome 1 |
|
Eczema, Bronchiectasis, Cafe-au-lait spot, Irregular hyperpigmentation, Dry skin |
OMIM:620184 |
Catastrophic Antiphospholipid Syndrome |
|
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Skin ulcer |
ORPHA:464343 |
Noonan Syndrome 10 |
|
Curly hair, Short stature, Sparse eyebrow, Patent ductus arteriosus, Hyperkeratosis, Palmoplantar... |
OMIM:616564 |
Cutaneous Small Vessel Vasculitis |
|
Recurrent skin infections, Erythema, Skin rash, Purpura |
ORPHA:889 |
Subcorneal Pustular Dermatosis |
|
Pruritus, Pustule, Erythema, Rheumatoid arthritis, Hyperpigmentation of the skin |
ORPHA:48377 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor |
ORPHA:56425 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... |
OMIM:300635 |
Chime Syndrome |
|
Erythema, Skin ulcer, Acute leukemia, Hyperkeratosis, Ichthyosis |
ORPHA:3474 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... |
ORPHA:79477 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Inguinal hernia, Ataxia, Cryptorchidism, Dysmetria, Truncal obesity, Dysdiadoch... |
OMIM:616541 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Achilles tendon contracture, Babinski sign, Dysmetria, Hand ... |
OMIM:302800 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Bronchiectasis, Facial erythema, Arthritis, Recurrent otitis medi... |
OMIM:620321 |
Rothmund-Thomson Syndrome |
|
Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Skin rash, Small for gestational age, Spa... |
ORPHA:2909 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... |
ORPHA:240094 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Thick eyebrow, Ataxia, Low anterior hairline, Long eyelashes, Sparse hair, Hirsutism |
OMIM:616819 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Hyp... |
OMIM:214500 |
Cushing Disease |
|
Leukocytosis, Amenorrhea, Skin ulcer, Secondary amenorrhea, Thin skin, Oligomenorrhea, Abnormal l... |
ORPHA:96253 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Blau Syndrome |
|
Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Anemia, Abnormality of the liver, Ichthyosis... |
ORPHA:90340 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair, Low alkaline phosphatase, Ankle flexion contracture |
OMIM:619985 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patent ductus arterio... |
OMIM:106260 |
Noonan Syndrome 2 |
|
Curly hair, Short stature, Sparse eyebrow, Patent ductus arteriosus, Low posterior hairline, Hype... |
OMIM:605275 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Atopic dermatitis,... |
OMIM:115150 |
Erythroderma Desquamativum |
|
Failure to thrive, Seborrheic dermatitis |
ORPHA:314 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Small for gestational age, Dorsocervical fat pad, Synophrys, Low anterior hairl... |
ORPHA:391408 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Aredyld Syndrome |
|
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Sparse body... |
ORPHA:1133 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Babinski sign, Slurred speech, Unsteady gait, Flexion contracture, Clumsi... |
ORPHA:137898 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Mirage Syndrome |
|
Cryptorchidism, Thrombocytopenia, Patent ductus arteriosus, Paraplegia, Leukopenia, Aspiration pn... |
OMIM:617053 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Recurrent skin infections, Hyperpigmentation of the skin, Erythema, Depigmentation/hype... |
ORPHA:79396 |
Adult Syndrome |
|
Dry skin, Thin skin, Skin ulcer, Melanocytic nevus |
ORPHA:978 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... |
OMIM:615280 |
Fixed Drug Eruption |
|
Stomatitis, Erythema, Hyperpigmentation of the skin, Crusting erythematous dermatitis |
ORPHA:293812 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Failure to thrive, Lipoatrophy, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... |
ORPHA:2457 |
Leukocyte Adhesion Deficiency, Type I |
|
Leukocytosis, Rectal abscess, Skin ulcer |
OMIM:116920 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis, Rhizomelia, Short stature, Intrauterine growth retardation |
ORPHA:163966 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Seborrheic dermatitis, Patent ductus arteriosus, Palmoplantar hyperkeratosis, Arthritis, Eczemato... |
OMIM:259100 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Erythema, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatiti... |
OMIM:147060 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Obesity, Low posterior hairline |
ORPHA:2183 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Spontaneous Periodic Hypothermia |
|
Tremor, Gait disturbance, Skin rash, Ataxia |
ORPHA:29822 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Hyperkeratosis, Inflammation of the large intes... |
ORPHA:29207 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Obesity, Shuffling... |
ORPHA:3077 |
Xeroderma Pigmentosum |
|
Alopecia, Short stature, Hypermelanotic macule, Keratitis, Thickened skin, Erythema, Hypopigmente... |
ORPHA:910 |
Even-Plus Syndrome |
|
Sparse hair, Synophrys, Atopic dermatitis, Highly arched eyebrow |
OMIM:616854 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Appendicular spasticity, Cerebral palsy, Flexion contracture, Sparse hair, Failure to thrive |
OMIM:620001 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
Warty Dyskeratoma |
|
Abnormal fingernail morphology, Acrokeratosis, Epidermal thickening, Acantholysis |
ORPHA:69745 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Torticollis, Contracture of the proximal interphalangeal joint of the 2nd finger, Cryptorchidism,... |
ORPHA:2872 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Ataxia, Pneumonia, Pure red cell aplasia, Autoimmune thro... |
OMIM:613179 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, Slowed slurred speech, Spar... |
ORPHA:284180 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Paronychia, Low alkaline phosphatase, Alopecia of sca... |
OMIM:201100 |
Ataxia-Telangiectasia |
|
Failure to thrive, Sinusitis, Ataxia, Tremor, Inability to walk, Abnormal hair morphology, Slurre... |
OMIM:208900 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... |
ORPHA:70594 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Short stature, Trichiasis, Hyperkeratosis, Nail dysplasia, Trichodysplasia, Dry skin |
OMIM:601701 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Subcutaneous nodule, Periarticular subcutaneous nodules, Lipogranulom... |
OMIM:228000 |
Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
Mycosis Fungoides |
|
Pruritus, Erythema, Eczema, Psoriasiform dermatitis |
OMIM:254400 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Fine hair, Anemia, Premature graying of hair, Abnormalit... |
OMIM:612199 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Thickened skin, Skin rash |
ORPHA:1658 |
Bethlem Myopathy |
|
Waddling gait, Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle fl... |
ORPHA:610 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Erythema, Cheilitis, Abnormality of skin pigmentation, Hyperkeratosis,... |
ORPHA:2908 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair, Cryptorchidism, Umbilical hernia |
OMIM:273390 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Lipodystrophy, Tremor, Oromotor apraxia, Failure to thrive, Hepati... |
ORPHA:300536 |
Adams-Oliver Syndrome |
|
Alopecia, Portal hypertension, Congenital hepatic fibrosis, Aplastic/hypoplastic toenail, Hemipar... |
ORPHA:974 |
Eec Syndrome |
|
Short stature, Slow-growing hair, Keratitis, Sparse eyebrow, Nail pits, Fine hair, Inflammatory a... |
ORPHA:1896 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... |
OMIM:300869 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Aceruloplasminemia |
|
Refractory anemia, Abnormal circulating enzyme concentration or activity, Torticollis, Dystonia, ... |
ORPHA:48818 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Acral ulceration |
OMIM:162400 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Pallor, Poikilocytosis, Prol... |
OMIM:300908 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Systemic Sclerosis |
|
Cutaneous sclerotic plaque, Digital pitting scar, Thickened skin, Spotty hypopigmentation, Digita... |
ORPHA:90291 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... |
ORPHA:158687 |
Late-Infantile/Juvenile Krabbe Disease |
|
Abnormal circulating enzyme concentration or activity, Lower limb spasticity, Ataxia, Tremor, Slu... |
ORPHA:206443 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nail pits, Alopecia of... |
OMIM:103285 |
Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Mottled pigmentation, Eczema |
ORPHA:1525 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... |
OMIM:312080 |
Acrodermatitis Enteropathica |
|
Erythema, Dry skin, Skin ulcer |
ORPHA:37 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Lymphopenia, Chronic active hepatitis, Biliary cirrhosis, Skin ulcer, Lymphade... |
ORPHA:289390 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Few cafe-au-lait spo... |
OMIM:619503 |
Joubert Syndrome 37 |
|
Hepatomegaly, Cryptorchidism, Obesity, Sparse hair, Oculomotor apraxia, Decreased testicular size |
OMIM:619185 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:611490 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Erythema, Rheumatoid arthritis |
ORPHA:79099 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Alopecia, P... |
ORPHA:37042 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Thickened skin, Acne, Seborrheic dermatitis |
OMIM:167100 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Skin ulcer, Hepatospleno... |
ORPHA:2072 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Giant Cell Arteritis |
|
Mediastinal lymphadenopathy, Skin ulcer |
ORPHA:397 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... |
OMIM:618877 |
Immunodeficiency 55 |
|
Short stature, Recurrent skin infections, Eczema, Postnatal growth retardation, Ichthyosis, Intra... |
OMIM:617827 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Increased circulating interleukin 6 concentration, He... |
ORPHA:542323 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Thickened skin, Ocular albinism, Melanocytic nevus, H... |
ORPHA:79430 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Hypopigmented skin p... |
ORPHA:381 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair, Ichthyosis |
ORPHA:177 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Keratoconjunctivitis s... |
OMIM:234050 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Lower limb spasticity, Hip contracture, Seborrheic dermatitis, Large for gestationa... |
OMIM:300868 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Splenomegaly, Thickened skin, Skin ulcer, Dry skin |
ORPHA:955 |
Immunodeficiency 43 |
|
Subcutaneous nodule, B lymphocytopenia, Reduced natural killer cell count, Lung abscess |
OMIM:241600 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Impotence, ... |
OMIM:235200 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ... |
ORPHA:1807 |
Fg Syndrome 3 |
|
Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture |
OMIM:300406 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Failure to thrive, Hyperconvex nail, Eczema |
OMIM:619721 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Synophrys, Low posterior hairline, Clumsiness, Thin eyebrow, Sparse hair |
OMIM:619320 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... |
OMIM:613011 |
Dermoodontodysplasia |
|
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair |
ORPHA:1660 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... |
OMIM:308240 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Chédiak-Higashi Syndrome |
|
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... |
ORPHA:167 |
Congenital Short Bowel Syndrome |
|
Sparse hair, Lipoatrophy |
ORPHA:2301 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Ataxia, Eczema, Small for gestational age, Thin nail, Inability to walk, V... |
OMIM:617799 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Spastic diplegia, Camptodactyly, Sparse hair, Enamel hypoplasia, Thrombocytopenia |
OMIM:619980 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Synophrys, Palmoplantar hyper... |
ORPHA:3253 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Dystonia, Failure to thrive, Tremor, Sple... |
OMIM:615512 |
Bone Marrow Failure Syndrome 4 |
|
Rhizomelia, Dry skin, Short stature, Eczema |
OMIM:618116 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... |
ORPHA:52368 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis, Subcutaneous nodule, Papule, Cardiomegaly |
ORPHA:79280 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor |
ORPHA:90037 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Erythema |
ORPHA:33577 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Inguinal hernia, Cryptorchidism, Athetosis, Sparse hair, Umbilical hernia, Failure to thrive |
OMIM:219150 |
Ramon Syndrome |
|
Short stature, Hyperkeratosis, Pigmentary retinopathy, Juvenile rheumatoid arthritis, Hypertrichosis |
OMIM:266270 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Juvenile rheuma... |
ORPHA:275 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Failure to thrive, Brittle hair, Small for gestational age, Curly hair, Increased m... |
OMIM:222470 |
Macs Syndrome |
|
Alopecia, Sparse eyebrow, Cryptorchidism, Bronchiectasis, Ichthyosis, Recurrent aphthous stomatit... |
OMIM:613075 |
Agammaglobulinemia 6, Autosomal Recessive |
|
B lymphocytopenia, Abnormal T cell morphology |
OMIM:612692 |
Revesz Syndrome |
|
Aplastic anemia, Ataxia, Nail pits, Fine hair, Hypertonia, Bone marrow hypocellularity, Nail dyst... |
OMIM:268130 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Tremor, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encep... |
ORPHA:83317 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Cutaneous Collagenous Vasculopathy |
|
Pruritus, Erythema, Skin rash, Petechiae |
ORPHA:280779 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Broad-based gait, Brittle hair, Small for gestational age, Failure to thrive in infancy, Poor coo... |
OMIM:618891 |
Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairli... |
OMIM:613224 |
Anauxetic Dysplasia 2 |
|
Sparse hair, Nail dysplasia, Flexion contracture, Small nail |
OMIM:617396 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Tremor, Inability... |
OMIM:128100 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... |
OMIM:618935 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Recurrent skin infections, Ocular albinism |
OMIM:614171 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... |
ORPHA:64743 |
Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:1006 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Increased circulating lactate dehydrogenase... |
OMIM:619405 |
Immunoglobulin A Vasculitis |
|
Macule, Orchitis, Erythema, Skin ulcer, Purpura |
ORPHA:761 |
Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
Ruijs-Aalfs Syndrome |
|
Lipodystrophy, Hepatocellular carcinoma, Elbow flexion contracture, Premature graying of hair, De... |
OMIM:616200 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the lymphatic syste... |
ORPHA:69735 |
Atypical Werner Syndrome |
|
Aplasia/Hypoplasia of the skin, Premature ovarian insufficiency, Lack of skin elasticity, Skin ul... |
ORPHA:79474 |
Hartnup Disease |
|
Skin rash, Short stature, Hypopigmented skin patches, Irregular hyperpigmentation, Infectious enc... |
ORPHA:2116 |
Parkes Weber Syndrome |
|
Skin ulcer, Abnormal lymphatic vessel morphology, Erythematous plaque, Capillary malformation, Sc... |
ORPHA:90307 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Menkes Disease |
|
Alopecia, Brittle hair, Babinski sign, Hypertonia, Sparse hair |
OMIM:309400 |
Tay-Sachs Disease |
|
Abnormal circulating enzyme concentration or activity, Exaggerated startle response, Incoordinati... |
ORPHA:845 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Skin ulcer, Lymphadenopathy |
ORPHA:424016 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Stomatocytosis,... |
OMIM:153670 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Failure to thrive, Broad-based gait, Eczema, Seborrheic dermatitis, Obesity, Hemiparesis, Abnorma... |
ORPHA:369950 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Skin ulcer |
OMIM:608710 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Shukla-Vernon Syndrome |
|
Sparse hair, Broad-based gait |
OMIM:301029 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Flexion contracture, Follicular hyperkeratosis, Failure to thrive, Slender build |
OMIM:254090 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Thick hair, Tremor, Inability to walk, Dysmetria, Limb ataxia, Multiple lipomas, Dysdiado... |
OMIM:617675 |
19Q13.11 Microdeletion Syndrome |
|
Cachexia, Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or absent eyelashes, Nail dyspl... |
ORPHA:217346 |
2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Decreased testicular size, Fine hair |
ORPHA:251019 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Skin ulcer |
OMIM:245660 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Agel Amyloidosis |
|
Ataxia, Pruritus, Keratoconjunctivitis sicca, Abnormal spleen morphology, Nail dystrophy, Sparse ... |
ORPHA:85448 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology, Abnormal dental enamel ... |
ORPHA:1515 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Dermatomyositis |
|
Aplasia/Hypoplasia of the skin, Abnormal eosinophil morphology, Erythema, Skin ulcer, Dry skin, P... |
ORPHA:221 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Juvenile Dermatomyositis |
|
Erythema, Dry skin, Skin ulcer |
ORPHA:93672 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Rhinitis, H... |
OMIM:614941 |
Amoebiasis Due To Free-Living Amoebae |
|
Subcutaneous nodule, Skin ulcer, Granuloma, Increased red blood cell count, Papule |
ORPHA:68 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Sparse hair |
OMIM:620075 |
Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis |
OMIM:119580 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... |
OMIM:137440 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Onycholysis, Seborrheic dermatitis |
OMIM:104570 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Ataxia, Eczema, Tremor, Synophrys, Spastic diplegia, Gait disturbance, Gait imbalance, Sparse hai... |
OMIM:300966 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Thickened skin, Erythema, Intermittent generalized erythematous papular rash, Skin ... |
ORPHA:99921 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... |
OMIM:168605 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis... |
OMIM:606721 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Keratitis, Splenomegaly, Jaundice, Tre... |
ORPHA:525731 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Short stature, Acne, Frontal balding, Synophrys, Facial hirsutism, High anterior h... |
ORPHA:247768 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosis, Amenorrhea, S... |
ORPHA:99889 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Sclerodactyly |
OMIM:610644 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Lymphadenopathy |
OMIM:619183 |
Erythema Elevatum Diutinum |
|
Skin vesicle, Skin rash |
ORPHA:90000 |
Familial Benign Copper Deficiency |
|
Early balding, Short stature, Acne |
ORPHA:1551 |
Transketolase Deficiency |
|
Hepatomegaly, Seborrheic dermatitis, Patent ductus arteriosus, Uveitis, Conjunctivitis |
ORPHA:488618 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Inguinal hernia, Eczema, Sparse medial eyebrow, Cryp... |
OMIM:601358 |
3-Methylglutaconic Aciduria, Type Viib |
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Dystonia, Ataxia, Tremor, Recurrent pneumonia, Flexion contracture, Opisthotonus, Choreoathetosis... |
OMIM:616271 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... |
OMIM:620133 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Granulomatosis With Polyangiitis |
|
Skin ulcer, Granulomatosis, Prostatitis, Pancreatitis, Papule, Purpura |
ORPHA:900 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
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Eunuchoid habitus, Sparse body hair, Decreased testicular size, Obesity |
ORPHA:2234 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Sparse eyebrow |
OMIM:619989 |
Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow, Cachexia |
ORPHA:884 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Epidermal acanthosis |
OMIM:618267 |
Lymphatic Filariasis |
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Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel... |
ORPHA:2035 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
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Eczema, Eosinophilic infiltration of the esophagus, Recurrent pneumonia, Bronchiectasis, Atopic d... |
OMIM:243700 |
Cartilage-Hair Hypoplasia |
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Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... |
OMIM:250250 |
Desbuquois Syndrome |
|
Sparse hair, Camptodactyly of finger, Abnormal eyelash morphology |
ORPHA:1425 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey... |
ORPHA:2273 |
Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Erythema, Eczema |
OMIM:177000 |
Premature Aging Syndrome, Penttinen Type |
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Flexion contracture of finger, Lipoatrophy, Thickened skin, Palmoplantar hyperkeratosis, Hyperker... |
OMIM:601812 |
Johnson Neuroectodermal Syndrome |
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Absent eyebrow, Alopecia, Absent eyelashes, Sparse hair, Failure to thrive |
ORPHA:2316 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Large for gestational age, Palmoplantar hyperkeratosis, Gait ataxia, Sparse hair, Hepatomegaly, E... |
OMIM:280000 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Acral ulceration |
OMIM:201300 |
Sabinas Brittle Hair Syndrome |
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Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... |
OMIM:278000 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Eczema, Keratoconjunctivitis, Growth delay, Perioral eczema |
ORPHA:79242 |
Joubert Syndrome With Hepatic Defect |
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Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Ataxia, Portal hypertension, Highly... |
ORPHA:1454 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Failure to thrive |
OMIM:602361 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Absent eyebrow, Brittle hair, Absent nipple, Eczema, Sparse eyelashes, Concave nail, Absent eyela... |
OMIM:305100 |
X-Linked Intellectual Disability, Cabezas Type |
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Broad-based gait, Inguinal hernia, Camptodactyly of finger, Cachexia, Abnormal hair pattern, Trem... |
ORPHA:85293 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair, Small for gestational age, Camptodactyly of finger |
OMIM:610756 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Autoimmune Hemolytic Anemia, Warm Type |
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Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor |
ORPHA:90033 |
Dermatitis Herpetiformis |
|
Skin vesicle, Erythema, Eczema, Pruritus |
ORPHA:1656 |
Autosomal Erythropoietic Protoporphyria |
|
Pruritus, Erythema, Eczema |
ORPHA:79278 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Digeorge Syndrome |
|
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, ... |
OMIM:188400 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Micropenis, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Growth delay, Scaling skin, Delayed puberty, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3464 |
Adiposis Dolorosa |
|
Recurrent skin infections, Sparse axillary hair, Sparse pubic hair, Arthritis, Dry skin |
ORPHA:36397 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Giant cell ... |
ORPHA:79095 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Ataxia, Abnormal fingernail morphology, Slow-growing hair, Abnormal den... |
ORPHA:2710 |
Familial Tumoral Calcinosis |
|
Hepatomegaly, Splenomegaly, Erythema, Subcutaneous nodule, Hypopigmented skin patches, Periarticu... |
ORPHA:53715 |
Bullous Pemphigoid |
|
Erythema, Eczema, Psoriasiform dermatitis |
ORPHA:703 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Menkes Disease |
|
Hypopigmentation of hair, Osteomyelitis, Inguinal hernia, Thickened skin, Chorea, Atypical scarri... |
ORPHA:565 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... |
OMIM:608612 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Camptodactyly of toe, Truncal obesity, Sparse hair, Decreased testicular size, Th... |
ORPHA:127 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Thrombocytopenia, Subcutaneous nodule, Reticulocytopenia, Leukopenia, B lymphocytope... |
ORPHA:508542 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Speech apraxia, Dystonia, Ataxia, Waddling gait, Tre... |
OMIM:615356 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Pearson Syndrome |
|
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Decreased r... |
ORPHA:699 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... |
ORPHA:1787 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Acral ulceration |
OMIM:256840 |
Down Syndrome |
|
Abnormality of the lymphatic system, Obesity, Gait disturbance, Sparse hair, Umbilical hernia, Ac... |
ORPHA:870 |
Bainbridge-Ropers Syndrome |
|
Thick eyebrow, Supernumerary nipple, Highly arched eyebrow, Inability to walk, Cryptorchidism, Sy... |
OMIM:615485 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Sparse eyelashes, Sparse eyebrow, Cryptorch... |
OMIM:613026 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis, Eczema |
OMIM:617443 |
Plague |
|
Hepatomegaly, Lymphadenitis, Localized skin lesion, Splenomegaly, Skin ulcer, Enlarged mesenteric... |
ORPHA:707 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign... |
ORPHA:99027 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Multi... |
OMIM:601186 |
Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis |
OMIM:609536 |
Rothmund-Thomson Syndrome Type 1 |
|
Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Small for gestational age, Alopecia total... |
ORPHA:221008 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Localized skin lesion, Chronic lymphatic leukemia, Acral ulceration, Purpura |
ORPHA:91139 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Fine hair, Anemia, Leukopenia, Truncal obesity, Hemophagocytosis, Spa... |
OMIM:222700 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Weaver Syndrome |
|
Deep-set nails, Inguinal hernia, Thin nail, Cryptorchidism, Patent ductus arteriosus, Slurred spe... |
OMIM:277590 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... |
ORPHA:79124 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Acral ulceration |
OMIM:608654 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Chromosome 5P13 Duplication Syndrome |
|
Sparse hair, Small for gestational age, Low posterior hairline |
OMIM:613174 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Eruptive xanthomas, Pancreatitis |
OMIM:207750 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Arthritis, Inflammation of the... |
ORPHA:324964 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Micronodular cirrhosis,... |
OMIM:256810 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Wilson Disease |
|
Acute hepatic failure, Tremor, Osteoarthritis, Hand tremor, Limb dystonia, Hepatic steatosis, Hyp... |
OMIM:277900 |
De Barsy Syndrome |
|
Inguinal hernia, Lipodystrophy, Cryptorchidism, Patent ductus arteriosus, Athetosis, Progressive ... |
ORPHA:2962 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair, Dystonia |
OMIM:614105 |
Listeriosis |
|
Liver abscess, Tremor, Granulomatosis, Conjunctivitis, Cholecystitis, Infectious encephalitis, Un... |
ORPHA:533 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cryptorchidism, Skin ulcer, Atypical scarring of skin, Anemia, Azoospermia, Thrombocytopenia |
ORPHA:534 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis, Nevus |
OMIM:620189 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Bronchiectasis, Atopic dermatitis... |
ORPHA:436159 |
Short Syndrome |
|
Inguinal hernia, Alopecia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss, Sparse ... |
ORPHA:3163 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia, Eczema |
OMIM:608118 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Hypersplenism, Splenomegaly, Cutis marmorata telangiectatica congenita, A... |
OMIM:616028 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, C... |
OMIM:620005 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Abnormality of the liver, Progre... |
ORPHA:646 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology |
ORPHA:398189 |
Scarf Syndrome |
|
Inguinal hernia, Cryptorchidism, Hepatocellular adenoma, Low posterior hairline, Hypoplastic nipp... |
ORPHA:3134 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Thick eyebrow, Unsteady gait, Hypertonia, Long eyelashes, Sparse hair, Failure to thrive, Hirsutism |
OMIM:212066 |
Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Osteoarthritis, Leukonychia, Fine hair, Thin eyebrow,... |
OMIM:190350 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Lipodystrophy, Thick hair, Abnormal subcutaneous fat tissue distribution, Coarse... |
ORPHA:357074 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Tremor, Abnormal pyramidal sign, Hypertonia, Extrapyramida... |
ORPHA:51 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Thickened skin, Synophrys, Abnormality of dermal melanosomes, Hypopl... |
ORPHA:73223 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, T lympho... |
OMIM:600802 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Ataxia, Small for gestational age, T... |
OMIM:133540 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu... |
OMIM:604292 |
Rothmund-Thomson Syndrome Type 2 |
|
Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Small for gestational age, Alopecia total... |
ORPHA:221016 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Inguinal hernia, Acne, Abnormal dental enamel morphology, Abnormality of the ... |
ORPHA:567 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca |
OMIM:617321 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis, Spasticity, Ataxia, High anterior hairline |
OMIM:615510 |
Sitosterolemia 1 |
|
Reticulocytosis, Tuberous xanthoma, Thrombocytopenia, Splenomegaly, Giant platelets, Xanthelasma,... |
OMIM:210250 |
White-Sutton Syndrome |
|
Waddling gait, Congenital diaphragmatic hernia, Patent ductus arteriosus, Obesity, Sparse hair, F... |
OMIM:616364 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Inguinal hernia, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Fine hair, Athet... |
OMIM:614438 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Sparse scalp hair, Splenomegaly, Aplasia of the sweat glands, Sparse hair, Failure ... |
OMIM:612132 |
Kikuchi-Fujimoto Disease |
|
Macule, Erythematous macule, Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Skin no... |
ORPHA:50918 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Hip contracture, Ataxia, Tremor, Spl... |
OMIM:216400 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Leprechaunism |
|
Facial hypertrichosis, Hepatomegaly, Enlarged ovaries, Reduced subcutaneous adipose tissue, Thick... |
ORPHA:508 |
Blau Syndrome |
|
Intermittent generalized erythematous papular rash, Skin ulcer |
OMIM:186580 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu... |
OMIM:129900 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Lipoatrophy, Absent eyelashes, Abnormal intrahepatic bile duct morphology, Premat... |
ORPHA:363618 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... |
OMIM:242860 |
Hamamy Syndrome |
|
Hypoparathyroidism, Inguinal hernia, Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Cryptor... |
OMIM:611174 |
Kallmann Syndrome |
|
Ataxia, Tremor, Cryptorchidism, Breast hypoplasia, Paraplegia, Obesity, Gait disturbance, Ichthyo... |
ORPHA:478 |
Mixed Connective Tissue Disease |
|
Myositis, Pericarditis, Skin rash, Gastritis, Alopecia, Myocarditis, Arthritis, Keratoconjunctivi... |
ORPHA:809 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Trichiasis, Acantho... |
ORPHA:95455 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail... |
OMIM:258360 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Penetrating foot ulcers |
ORPHA:99956 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor... |
OMIM:614298 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Alopecia, Brittle hair, Ataxia, Abnormal dental enamel morphology,... |
ORPHA:2750 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia |
OMIM:614069 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypoplastic nipples, Small nail |
OMIM:273400 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Menorrhagia, Abnormal number of alpha granules |
OMIM:139090 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Inguinal hernia, Brittle hair, Increased iduronate sulfatase level, Sparse eyebrow,... |
OMIM:252500 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Abnormal dental enamel morphology, Spar... |
ORPHA:1071 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia |
OMIM:617763 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Small for gestational age, Ataxia, Cryptorchidism, Gout, Sparse hair, Increased phosphoribosylpyr... |
OMIM:300661 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Erythema, Epididymitis, Arthritis, Patchy alopecia, Iritis |
OMIM:109650 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Weight loss, Periodic paralysis, Goiter |
OMIM:613239 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Thickened skin, Splenomegaly, Jaundice, Atypical scarring of skin... |
OMIM:263700 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Eczema, Irregular hyperpigmentation, Dry skin, Abnormal... |
ORPHA:428 |
Oculodentodigital Dysplasia |
|
Dry hair, Ataxia, Slow-growing hair, Paraparesis, Uveitis, Fine hair, Tetraparesis, Joint contrac... |
OMIM:164200 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Patent ductus arteriosus, L... |
OMIM:617506 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Preauricular pit, Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hep... |
OMIM:208540 |
African Trypanosomiasis |
|
Tremor, Choreoathetosis, Conjunctivitis, Iritis, Hepatomegaly, Alopecia, Abnormal central motor f... |
ORPHA:3385 |
Noonan Syndrome 14 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Sparse hair, Lymphopenia |
OMIM:619745 |
Estrogen Resistance |
|
Breast aplasia, Acne, Acanthosis nigricans, Delayed puberty |
OMIM:615363 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Splenomegaly, Cryptorchidism, Hepatosple... |
OMIM:613563 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Small for gestational age, Sparse eyelashes, Absent ... |
OMIM:268400 |
Dpagt1-Cdg |
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Elevated hepatic transaminase, Hepatomegaly, Ataxia, Lipodystrophy, Akinesia, Tremor, Thickened s... |
ORPHA:86309 |
Parkinson Disease 20, Early-Onset |
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Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Trichorhinophalangeal Syndrome Type 1 |
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Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails |
ORPHA:77258 |
B4Galt1-Cdg |
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Inflammatory abnormality of the skin, Redundant neck skin |
ORPHA:79332 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
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Waddling gait, Small for gestational age, Small nail, Nail dysplasia, Sparse hair, Failure to thr... |
OMIM:614813 |
Hallermann-Streiff Syndrome |
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Sparse scalp hair, Small for gestational age, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, R... |
OMIM:234100 |
Chikungunya |
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Maculopapular exanthema, Skin rash, Pruritus, Erythema nodosum, Erythema, Crusting erythematous d... |
ORPHA:324625 |
Hereditary Elliptocytosis |
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Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia |
OMIM:616084 |
Majeed Syndrome |
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Inflammatory abnormality of the skin, Osteomyelitis, Acne, Pustule, Synovitis, Abnormal inflammat... |
ORPHA:77297 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Alopecia, Eczema, Postnatal growth retardation, Hyperkeratosis, Cafe-au-lait spot, Ichthyosis, Re... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Alopecia, Eczema, Postnatal growth retardation, Hyperkeratosis, Cafe-au-lait spot, Ichthyosis, Re... |
ORPHA:363958 |
Wiedemann-Rautenstrauch Syndrome |
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Decreased response to growth hormone stimulation test, Tremor, Synophrys, Hypertonia, Acanthosis ... |
ORPHA:3455 |
Hyperlipoproteinemia, Type I |
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Splenomegaly, Jaundice, Eruptive xanthomas, Hepatosplenomegaly, Pancreatitis |
OMIM:238600 |
Uremic Pruritus |
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Pruritus, Inflammatory abnormality of the skin, Dry skin, Recurrent skin infections |
ORPHA:94059 |
Autoimmune Lymphoproliferative Syndrome |
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Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Marshall-Smith Syndrome |
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Omphalocele, Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Paten... |
OMIM:602535 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
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Perianal abscess, Pancolitis, Folliculitis, Enterocolitis |
OMIM:612567 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Acral ulceration |
OMIM:256800 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
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Lower limb spasticity, Broad-based gait, Cryptorchidism, Fine hair, Hypertonia, Sparse hair, Decr... |
ORPHA:251028 |
Cranioectodermal Dysplasia 2 |
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Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Sparse eyelashes, Cholangitis, Spar... |
OMIM:613610 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... |
ORPHA:183675 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Fasciitis, Myositis, Pericarditis, Skin rash, Hypermelanotic macule, Orchitis, Peritonitis, Eryth... |
ORPHA:32960 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Skin rash, Numerous pigmented freckles, Dry skin, Short stature |
ORPHA:220295 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
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Fine hair, Hepatic fibrosis, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
OMIM:614091 |
Myhre Syndrome |
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Ataxia, Small for gestational age, Thickened skin, Patent ductus arteriosus, Cryptorchidism, Obes... |
OMIM:139210 |
Thrombocytopenia-Absent Radius Syndrome |
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Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Leukocytosis, Patent ductus arteriosus, He... |
OMIM:274000 |
6Q Terminal Deletion Syndrome |
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Highly arched eyebrow, Low anterior hairline, Obesity, Dysmetria, Gait ataxia, Hyperkeratosis, Fa... |
ORPHA:75857 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
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Brittle hair, Absent nipple, Sparse hair, Absent hair |
OMIM:614940 |
Agammaglobulinemia, X-Linked |
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Epididymitis, Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, B lymphocyt... |
OMIM:300755 |
Vexas Syndrome |
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Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
Complete Androgen Insensitivity Syndrome |
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Acne, Sparse axillary hair, Sparse pubic hair, Absent pubic hair, Absent axillary hair, Delayed p... |
ORPHA:99429 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Sparse hair, Spasticity, Recurrent pneumonia, Inguinal hernia |
OMIM:616449 |
Reynolds Syndrome |
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Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Scleroderma, Lymphopenia, S... |
OMIM:613471 |
Parkinson Disease, Late-Onset |
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Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168600 |
Sapho Syndrome |
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Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno... |
ORPHA:793 |
Tooth Agenesis, Selective, 4 |
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Sparse scalp hair, Sparse eyebrow, Short eyelashes, Palmar hyperkeratosis, Dystrophic fingernails... |
OMIM:150400 |
Trichorhinophalangeal Syndrome, Type Iii |
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Sparse hair, Sparse lateral eyebrow |
OMIM:190351 |
Scalp-Ear-Nipple Syndrome |
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Sparse axillary hair, Sparse pubic hair, Thickened skin, Pyelonephritis, Fine hair, Multiple lipo... |
OMIM:181270 |
Metachromatic Leukodystrophy |
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Abnormal circulating enzyme concentration or activity, Incoordination, Ataxia, Dystonia, Tremor, ... |
ORPHA:512 |
Leukocyte Adhesion Deficiency |
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Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Pyoderma gangrenosum, Recurr... |
ORPHA:2968 |
Rodrigues Blindness |
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Sparse hair, Fine hair |
OMIM:268320 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Acanthocytosis, Tremor, Rigidity, Babinski sign, ... |
OMIM:234200 |
Frontonasal Dysplasia 2 |
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Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:613451 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Sparse hair, Failure to thrive, Sparse eyelashes, Fine hair |
OMIM:257850 |
Kanzaki Disease |
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Hyperkeratosis, Dry skin, Petechiae |
OMIM:609242 |
Scarf Syndrome |
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Inguinal hernia, Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nippl... |
OMIM:312830 |
3-Methylglutaconic Aciduria, Type Viii |
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Dystonia, Clonus, Tremor, Patent ductus arteriosus, Jaundice, Hypertonia, Neutropenia, Neonatal d... |
OMIM:617248 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
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Sparse hair, Sparse eyelashes, Sparse eyebrow |
OMIM:224900 |
Glass Syndrome |
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Broad-based gait, Inguinal hernia, Long eyelashes, Nail dysplasia, Camptodactyly, Sparse hair |
OMIM:612313 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Alopecia, Short stature, Acne, Hyperpigmentation of the skin, Hirsutism |
ORPHA:90795 |
Cerebellar-Facial-Dental Syndrome |
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Inguinal hernia, Foot joint contracture, Sparse eyebrow, Cryptorchidism, Fine hair, Sparse hair, ... |
ORPHA:444072 |
Gapo Syndrome |
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Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sp... |
OMIM:230740 |
Cowden Syndrome |
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Macule, Enlarged polycystic ovaries, Subcutaneous nodule, Hypopigmented skin patches, Melanocytic... |
ORPHA:201 |
Hyperlipoproteinemia, Type Id |
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Hepatomegaly, Splenomegaly, Eruptive xanthomas, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Sparse hair, Molluscum contagiosum, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Nablus Mask-Like Facial Syndrome |
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Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorchidism, Sparse eyebrow, Low an... |
OMIM:608156 |
Hallermann-Streiff Syndrome |
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Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Uveitis,... |
ORPHA:2108 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Sparse scalp hair, Hip contracture, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... |
OMIM:210710 |
Aregenerative Anemia |
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Abnormality of interleukin secretion |
ORPHA:101096 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Elevated hemoglobin A1c, Sparse eyebrow, Flexion con... |
OMIM:619127 |
Common Variable Immunodeficiency |
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Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ... |
ORPHA:1572 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
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Sparse hair, Atrophic scars, Joint contracture, Decreased body weight |
OMIM:615349 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
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Sparse hair |
OMIM:619910 |
Gaucher Disease |
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Hepatomegaly, Pancytopenia, Osteomyelitis, Ataxia, Tremor, Splenomegaly, Osteoarthritis, Hemipleg... |
ORPHA:355 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Waddling gait, Inguinal hernia, Patent ductus arteriosus, Atrophic scars, Follicular hyperkeratos... |
OMIM:614557 |
Hawkinsinuria |
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Sparse hair, Failure to thrive |
OMIM:140350 |
Opitz-Kaveggia Syndrome |
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Inguinal hernia, Multiple joint contractures, Cryptorchidism, Fine hair, Frontal upsweep of hair,... |
OMIM:305450 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Cryptorc... |
ORPHA:2232 |
Marshall Syndrome |
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Sparse hair, Osteoarthritis, Sparse eyelashes, Sparse eyebrow |
ORPHA:560 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Sparse scalp hair, Anterior pituitary hypoplasia, Highly arched eyebrow, Aplasia of the right hem... |
OMIM:619841 |
Oligodontia-Colorectal Cancer Syndrome |
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Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Episcleritis, Short stature, Hyperpigmentation of the skin, Sparse axillary hair, Erythema nodosu... |
OMIM:256040 |
Mosaic Variegated Aneuploidy Syndrome 2 |
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Sparse hair, Small for gestational age, Decreased response to growth hormone stimulation test |
OMIM:614114 |
Cranioectodermal Dysplasia 1 |
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Hepatomegaly, Inguinal hernia, Slow-growing hair, Thin nail, Malformation of the hepatic ductal p... |
OMIM:218330 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
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Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline |
OMIM:250410 |
Cartilage-Hair Hypoplasia |
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Hepatomegaly, Sparse eyebrow, Abnormality of the pancreas, Neutropenia, Sparse hair, Failure to t... |
ORPHA:175 |
Immunodeficiency 40 |
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T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia |
OMIM:616433 |
Woodhouse-Sakati Syndrome |
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Alopecia, Fine hair, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia, Spa... |
OMIM:241080 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Eunuchoid habitus, Cryptorchidism, Breast hypoplasia, Hypoplasia of the ovary, Sparse body hair, ... |
ORPHA:432 |
Cranioectodermal Dysplasia 3 |
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Short nail, Broad nail, Fine hair, Cirrhosis, Sparse hair |
OMIM:614099 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Premature ovarian insufficiency, Hypospadias, Hypergonadotropic hypogonadism, Microcytic anemia, ... |
ORPHA:2959 |
Fabry Disease |
|
Left ventricular hypertrophy, Hyperkeratosis, Subcutaneous nodule, Anemia |
ORPHA:324 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hepatitis, Neutropenia in presence of a... |
ORPHA:391487 |
Nijmegen Breakage Syndrome |
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Autoimmune hemolytic anemia, Premature ovarian insufficiency, T lymphocytopenia, B lymphocytopeni... |
OMIM:251260 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Hiatus hernia, Cryptorchidism, Patent ductus arteriosus, Unsteady gait, Sparse hair, Nail dysplas... |
OMIM:616682 |
Goldberg-Shprintzen Syndrome |
|
Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Limb hypertonia |
OMIM:609460 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Excessive wrinkled skin, Molluscoid pseudotumors, Thin skin, Follicular hyperkeratosis, Palmoplan... |
OMIM:225400 |
Osteogenesis Imperfecta, Type Xx |
|
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow |
OMIM:618644 |
Neurocardiofaciodigital Syndrome |
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Small for gestational age, Sparse eyebrow, Patent ductus arteriosus, Sparse hair, Failure to thrive |
OMIM:619869 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat... |
ORPHA:508533 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Cheilitis |
ORPHA:2483 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair, Patent ductus arteriosus, Hepatic steatosis, Joint contracture of the 5th finger |
OMIM:619934 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Thin nail, Concave nail, Achilles tendon contracture, Sparse hair, Ac... |
OMIM:218040 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Sparse body hair |
ORPHA:3068 |
Proteus Syndrome |
|
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Cachexia, Enlarged po... |
ORPHA:744 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal lymphocyte morphology, Severe B lymphocytopenia, Autoimmune thrombocytopenia |
ORPHA:293978 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Sparse eyebrow, Hydrocele testis, Hypoplastic nipples, Smal... |
OMIM:620186 |
Kaufman Oculocerebrofacial Syndrome |
|
Sparse hair, Failure to thrive, Sparse eyebrow |
OMIM:244450 |
Teebi-Shaltout Syndrome |
|
Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Camptodactyly, Sparse hair |
OMIM:272950 |
Orofaciodigital Syndrome I |
|
Dry hair, Alopecia, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Sparse hair, Enamel hypopla... |
OMIM:311200 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... |
ORPHA:221139 |
Alg12-Cdg |
|
Cryptorchidism, B lymphocytopenia, Redundant skin, Thrombocytopenia |
ORPHA:79324 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgG2 level, Leukopenia, T lym... |
OMIM:242840 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Anterior pituitary hypoplasia, Cryptorchidism, Elbow flexion contracture, Knee f... |
OMIM:151050 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... |
OMIM:619381 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Eczema, Pseudohypoparathyroidism, Obesity, Sparse hair, Frontal hirsutism, Failure to thrive |
OMIM:617157 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Absent eyelashes, Fi... |
ORPHA:920 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... |
OMIM:601104 |
Stuve-Wiedemann Syndrome 1 |
|
Elbow flexion contracture, Knee flexion contracture, Camptodactyly, Sparse hair, Contracture of t... |
OMIM:601559 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Cryptorchidism, Coarse hair, Brittle hair |
OMIM:607812 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, B lymphocytopenia, Neutropenia |
OMIM:601495 |
Warburg-Cinotti Syndrome |
|
Erythema, Thin skin, Follicular hyperkeratosis, Sterile abscess |
OMIM:618175 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Sparse axillary hair, Enlarged polycystic ovaries... |
ORPHA:90796 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Inguinal hernia, Synophrys, Atypical scarring of skin, Difficulty walking, Follicular hyperkerato... |
ORPHA:536545 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral hepatitis, Prostatitis, Absent circulating B cells |
OMIM:307200 |
Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion |
ORPHA:567983 |
Refractory Celiac Disease |
|
Inflammatory abnormality of the skin |
ORPHA:398063 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Palpable purpura, Membranoproliferative gl... |
ORPHA:48435 |
Pseudoxanthoma Elasticum |
|
Civatte bodies, Cutis laxa |
OMIM:264800 |
Split Cord Malformation |
|
Skin dimple, Penetrating foot ulcers |
ORPHA:573278 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Inflammatory abnormality of the skin, Pneumonia |
ORPHA:26793 |
Wrinkly Skin Syndrome |
|
Inguinal hernia, Lipodystrophy, Cryptorchidism, Slurred speech, Progressive cerebellar ataxia, Sp... |
ORPHA:2834 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia |
OMIM:607944 |
Roberts Syndrome |
|
Progressive flexion contractures, Cryptorchidism, Knee flexion contracture, Sparse hair, Wrist fl... |
ORPHA:3103 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, Aplas... |
ORPHA:83471 |
Focal Dermal Hypoplasia |
|
Ridged nail, Omphalocele, Inguinal hernia, Brittle hair, Supernumerary nipple, Congenital diaphra... |
OMIM:305600 |
Scalp-Ear-Nipple Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Breast aplasia, Pyelonephritis |
ORPHA:2036 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Rigidity, Cryptorchidism, Loss of eyelashes, Hypertonia, Thin eyebrow, Sparse hair, Spa... |
ORPHA:2636 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Pancreatitis, Ichthyosis |
ORPHA:565612 |
Renpenning Syndrome 1 |
|
Brittle hair, Camptodactyly, Sparse hair, Spasticity, Joint contracture of the hand, Decreased te... |
OMIM:309500 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Sparse scalp hair, Inguinal hernia, Bilateral cryptorchidism, Recurrent pneumo... |
OMIM:150230 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, ... |
ORPHA:449395 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Absent eyebrow, Omphalocele, Absent eyelashes, Hypoplastic nipples, Camptodactyly... |
OMIM:200110 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Ankle flexion contracture, Cryptorchidism, Patent ductus arteriosus, Biliary tr... |
OMIM:268300 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus |
OMIM:618223 |
Pallister-Killian Syndrome |
|
Omphalocele, Sparse scalp hair, Alopecia, Inguinal hernia, Sparse eyelashes, Supernumerary nipple... |
OMIM:601803 |
Wrinkly Skin Syndrome |
|
Inguinal hernia, Short nail, Cryptorchidism, Sparse hair, Umbilical hernia, Failure to thrive, Fr... |
OMIM:278250 |
Primrose Syndrome |
|
Sparse scalp hair, Hip contracture, Ataxia, Absent facial hair, Bilateral cryptorchidism, Cryptor... |
OMIM:259050 |
Branchiooculofacial Syndrome |
|
Supernumerary nipple, Cryptorchidism, Elbow flexion contracture, Low posterior hairline, Prematur... |
OMIM:113620 |
Menke-Hennekam Syndrome 1 |
|
Inguinal hernia, Cryptorchidism, Flexion contracture, Long eyelashes, Sparse hair, Umbilical hern... |
OMIM:618332 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |