Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Corneal dystrophy, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Facia... |
OMIM:308800 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Faci... |
OMIM:612843 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Cataract, Sparse e... |
OMIM:129500 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Hyp... |
OMIM:602400 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
Erythrokeratodermia Variabilis |
|
Alopecia, Cataract, Skin rash, Corneal opacity, Abnormal testis morphology, Abnormal hair morphol... |
ORPHA:317 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, F... |
OMIM:603165 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Developmental cataract, Hyperkera... |
OMIM:212360 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Abnormal eyelid morphology, Pustule, Paronych... |
ORPHA:37 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Epidermal acanthosis, Splenomegaly, Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Keratoconj... |
OMIM:617388 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Alopecia, Multinodular goiter, Dry skin, Palmoplantar keratoderma, S... |
OMIM:618373 |
Ifap Syndrome 2 |
|
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Atrich... |
OMIM:619016 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Hypohidrosis, Palmoplantar kerato... |
OMIM:618535 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Kid Syndrome |
|
Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Recurrent cutaneous fungal ... |
ORPHA:477 |
Vernal Keratoconjunctivitis |
|
Abnormal cornea morphology, Corneal neovascularization, Punctate keratitis, Abnormal conjunctiva ... |
ORPHA:70476 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Cataract, Entropion, Telangiectasia of the skin, Keratitis... |
ORPHA:910 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Epidermal acanthosis, Absent facia... |
ORPHA:90368 |
Lichen Planus Pemphigoides |
|
Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality of the nail |
ORPHA:254478 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Ect... |
ORPHA:2890 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Posterior blepha... |
OMIM:300918 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Epidermal acanthosis, Ectodermal dysplasia, Limbal stem cell deficiency, Palmoplan... |
OMIM:615225 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Epiphora, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Galactosialidosis |
|
Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma, ... |
OMIM:256540 |
Ulerythema Ophryogenesis |
|
Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, Contact dermat... |
ORPHA:3406 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Abnormal eyelid morphology, Splenomegaly, Erythema, Skin ulcer, Lymp... |
ORPHA:2584 |
Epilepsy-Telangiectasia |
|
Conjunctival telangiectasia, Synophrys |
OMIM:226850 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Upslanted palpebral fissure, Epicanthus, Iris cyst, Ptosis |
OMIM:620086 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconj... |
OMIM:158310 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Dry skin, Sparse hair |
OMIM:617073 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Absent pubic hair, Cutis laxa,... |
ORPHA:2269 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Nasolacrima... |
OMIM:604173 |
Rhizomelic Chondrodysplasia Punctata |
|
Epicanthus, Alopecia, Cataract, Dry skin, Sparse body hair |
ORPHA:177 |
Gómez-López-Hernández Syndrome |
|
Telecanthus, Alopecia of scalp, Toenail dysplasia, Corneal opacity |
ORPHA:1532 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia... |
OMIM:106260 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Hypohidrosis, Hyperkeratosis, Opacification of the corneal stroma, Dry skin |
ORPHA:461 |
Phenylketonuria |
|
Cataract, Eczema, Blue irides, Dry skin, Fair hair |
OMIM:261600 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Epicanthus, Red hair, Keratoglobus, Abnormal cornea morphology, Decreased corneal th... |
OMIM:229200 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Anhidrosis, Absent eyelashes, Palmoplantar hyperkeratosis, Ectodermal dysplasia, ... |
OMIM:604536 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Multiple eyelid margin cysts, Ectodermal dysplasia, ... |
OMIM:224750 |
Winchester Syndrome |
|
Corneal opacity, Hirsutism |
OMIM:277950 |
Bathing Suit Ichthyosis |
|
Alopecia, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hypohidrosis, Palmopl... |
ORPHA:100976 |
Dermoodontodysplasia |
|
Sparse scalp hair, Abnormal eyelid morphology, Hypohidrosis, Ectodermal dysplasia, Fingernail dys... |
ORPHA:1660 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Psoriasiform dermatitis, Blepharitis, Developmental cataract |
OMIM:616834 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy, Epiphora |
OMIM:122100 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Ectode... |
OMIM:129490 |
Lipoma Of The Conjunctiva |
|
Conjunctival lipoma |
OMIM:151700 |
Dermatopathia Pigmentosa Reticularis |
|
Palmoplantar hyperkeratosis, Hypohidrosis, Abnormal conjunctiva morphology, Nail dystrophy, Alope... |
OMIM:125595 |
Sjögren-Larsson Syndrome |
|
Corneal erosion, Erythema, Urticaria, Hyperkeratosis, Dry skin, Inflammatory abnormality of the eye |
ORPHA:816 |
Tangier Disease |
|
Myocardial infarction, Cicatricial ectropion, Splenomegaly, Nail dystrophy, Opacification of the ... |
OMIM:205400 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Microcornea, Tiger tail banding, Dry skin |
OMIM:616943 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Mi... |
ORPHA:35173 |
Distal Duplication 6P |
|
Abnormal hair quantity, Cataract, Abnormal eyelash morphology, Fine hair, Blepharophimosis, Dry s... |
ORPHA:1745 |
Eec Syndrome |
|
Entropion, Slow-growing hair, Decreased response to growth hormone stimulation test, Sparse eyebr... |
ORPHA:1896 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Cutan... |
OMIM:278730 |
Agel Amyloidosis |
|
Cataract, Bilateral ptosis, Xerostomia, Bruising susceptibility, Cutis laxa, Cardiomyopathy, Kera... |
ORPHA:85448 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Skin ulcer, Fine hair,... |
ORPHA:1806 |
Epithelial Recurrent Erosion Dystrophy |
|
Corneal erosion, Epiphora |
OMIM:122400 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Corneal dystrophy, Pulmonary embolism, Abnormal retinal vascular mor... |
ORPHA:3205 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Poor wound healing, Sparse eyeb... |
ORPHA:1010 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Telecanthus, Supernumerary nipple, Highly arched eyebrow, Synophrys,... |
OMIM:257920 |
Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity |
ORPHA:351 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Concave nail, Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperk... |
ORPHA:530838 |
Flotch Syndrome |
|
Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Inflammatory abnormali... |
ORPHA:2045 |
Corneal Dystrophy, Meesmann, 2 |
|
Epiphora, Recurrent corneal erosions |
OMIM:618767 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Atelis Syndrome 1 |
|
Cataract, Eczema, Hypothyroidism, Bronchiectasis, Dry skin, Downslanted palpebral fissures |
OMIM:620184 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Cataract, Abnormal fingernail mo... |
ORPHA:1775 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop... |
OMIM:106210 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Xerostomia, Hypohidrosis, Aplasia/H... |
ORPHA:238468 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Intraventricular hemorrhage,... |
ORPHA:420741 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Lacrimation abnormality, Sparse eyebrow, Hypohidrosis, Fine hair, Dy... |
ORPHA:1882 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A... |
ORPHA:324 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Sparse eyebrow, Onychogryposis of toenails, Hypohidrosis, Ectodermal dysplasia, Long palpebral fi... |
OMIM:600906 |
Keratosis Pilaris Atrophicans |
|
Absent eyelashes, Epiphora, Sparse eyebrow |
OMIM:604093 |
Ichthyosis With Confetti |
|
Hypertrichosis, Palmoplantar hyperkeratosis, Hypoplastic nipples, Scaling skin, Erythroderma, Ect... |
OMIM:609165 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Cataract, Fine hair, Microcornea, Telangiectasia, Fragile nails, Ker... |
OMIM:601675 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Mannosidosis, Beta A, Lysosomal |
|
Angiokeratoma, Tortuosity of conjunctival vessels |
OMIM:248510 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Tryptophanuria With Dwarfism |
|
Conjunctival telangiectasia, Cutaneous photosensitivity |
OMIM:276100 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Prematurely aged appearance, Cryptorchidism, Dry skin, Low posterior hair... |
ORPHA:2617 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Ptosis |
ORPHA:1473 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Eczema, Cutis laxa, Hyperkeratosis, Dry skin, Hypertrichosis |
OMIM:612379 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perianal erythema, Pustule, Paronychia, Perioral erythema, Erythroderma, Blepharitis, Onychogryposis |
OMIM:614328 |
Proteus Syndrome |
|
Epidermal acanthosis, Splenomegaly, Hyperkeratosis, Limbal dermoid, Lymphangioma, Downslanted pal... |
OMIM:176920 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm... |
ORPHA:2273 |
Recon Progeroid Syndrome |
|
Progeroid facial appearance, Hyperconvex thumb nails, Livedo reticularis, Absent lower eyelashes,... |
OMIM:620370 |
19Q13.11 Microdeletion Syndrome |
|
Cataract, Supernumerary nipple, Cryptorchidism, Fine hair, Microcornea, Sparse or absent eyelashe... |
ORPHA:217346 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Recurrent otitis m... |
OMIM:602562 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Cataract, Abnormality of hair texture,... |
ORPHA:170 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Epidermal acanthosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Scal... |
OMIM:612281 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Entropion, Trichiasis, Hypohidrosis, Ectodermal dysplasia, Nuclear cataract, Narr... |
OMIM:601701 |
Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Alopecia, Absent nipple, Psoriasiform dermatitis, Chronic irritative con... |
ORPHA:69085 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ectodermal dysplasia, Atrichia, Scaling skin, Periungual erythema, Dystrophic fingernails, Absent... |
OMIM:308205 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... |
ORPHA:774 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Peeling Skin Syndrome 3 |
|
Abnormal hair morphology, Erythema, White scaling skin |
OMIM:616265 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Viral hepatitis, Ectropion, Poor wound healing, Corneal scar... |
ORPHA:101330 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis, Bitot spots of the conjunctiva |
OMIM:277350 |
Sea-Blue Histiocytosis |
|
Splenomegaly, Mediastinal lymphadenopathy, Blepharitis, Petechiae |
ORPHA:158029 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hepatitis, Skin ulcer, Hyperkeratosis, Onycholysis, Pte... |
ORPHA:525 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Corneal opacity, Hyperparakeratosis, Periorificial hyper... |
OMIM:614594 |
Epilepsy-Telangiectasia Syndrome |
|
Conjunctival telangiectasia |
ORPHA:1951 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Neurotrophic Keratopathy |
|
Lacrimation abnormality, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal ... |
ORPHA:137596 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Xeroderma Pigmentosum Variant |
|
Keratitis, Cutaneous photosensitivity, Dry skin, Telangiectasia |
ORPHA:90342 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Subcutaneous hemorrhage |
ORPHA:1980 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Hurler-Scheie Syndrome |
|
Corneal opacity, Abnormality of the tonsils, Splenomegaly, Cardiomyopathy, Rhinitis, Generalized ... |
ORPHA:93476 |
Noonan Syndrome 13 |
|
Ptosis, Epicanthus, Highly arched eyebrow, Almond-shaped palpebral fissure, Cryptorchidism, Blue ... |
OMIM:619087 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, Hypoplas... |
ORPHA:906 |
Immunodeficiency 96 |
|
Recurrent otitis media, Conjunctival telangiectasia, Eczema |
OMIM:619774 |
Moebius Syndrome |
|
Epicanthus, Corneal opacity, Breast aplasia, Blepharitis, Ptosis |
ORPHA:570 |
Warburg-Cinotti Syndrome |
|
Epicanthus, Symblepharon, Poor wound healing, Erythema, Narrow palpebral fissure, Limbal stem cel... |
OMIM:618175 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Epidermal acanthosis, Angular cheilitis, Acantholysis, Punctate palmoplantar hyperkeratosis, Chei... |
OMIM:616295 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Cataract, Skin ulcer, Telangiectasia, Hyperkeratosis, Inter... |
ORPHA:454831 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Cryptorc... |
OMIM:613026 |
Lamellar Ichthyosis |
|
Chronic otitis media, Lack of skin elasticity, Hyperkeratosis, Erythroderma, Sparse hair, Dry ski... |
ORPHA:313 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno... |
ORPHA:248 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nasolacrimal duct obst... |
OMIM:103285 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Cataract, Low anterior hairline, Horizontal eyebrow, High anterior hairline, Dry skin, Thick eyebrow |
OMIM:618797 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Dacryocystitis, Lacrimation abnormality |
ORPHA:1562 |
Sézary Syndrome |
|
Alopecia, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, Nail dystrophy, Erythroderma, ... |
ORPHA:3162 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Dry skin, Subcapsular cataract, Polycystic ovaries |
OMIM:268020 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Congestive heart failure, ... |
OMIM:605676 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Progeroid facial appearance, Cutaneous photosensitivity, Cutaneous t... |
OMIM:615919 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Telangiectasia of the skin, Angioedema, Erythema, Darier's sign, Flushin... |
ORPHA:79455 |
Dermoodontodysplasia |
|
Ectodermal dysplasia, Dry skin, Nail dysplasia, Trichodysplasia |
OMIM:125640 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pustule, Cheilitis, Lymphadenopathy, ... |
ORPHA:293173 |
Blepharonasofacial Malformation Syndrome |
|
Epicanthus, Telecanthus, Lacrimation abnormality, Abnormal eyelash morphology, Cryptorchidism, To... |
ORPHA:1252 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, High anterior hairline, Dry skin, Fragile nails |
OMIM:617364 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Abnormal size of the palpebral fissures, Microcornea, Anterior synechia... |
ORPHA:3214 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Hyperhidrosis, Dystrophic fingernails, Thin n... |
OMIM:257980 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Cryptorchidism, Polycystic ovaries, Dry skin, Decreased testicular size |
ORPHA:3085 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Fragile skin, Scaling skin, Palmoplantar keratoderma |
OMIM:146590 |
Short Syndrome |
|
Alopecia, Posterior embryotoxon, Corneal opacity, Telecanthus, Abnormal pupil morphology, Hypopla... |
ORPHA:3163 |
Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Scarring alopecia of scalp, Splenomegaly, Loss of eyelashes,... |
ORPHA:95159 |
Leopard Syndrome 3 |
|
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Palpebral thickenin... |
OMIM:613707 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Cutaneous photosensitivity, C... |
ORPHA:312 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor... |
ORPHA:294023 |
Leopard Syndrome 2 |
|
Curly hair, Epicanthus, Hypertrophic cardiomyopathy, Dry skin, Downslanted palpebral fissures |
OMIM:611554 |
Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... |
ORPHA:209959 |
Focal Facial Dermal Dysplasia Type Iii |
|
Epicanthus, Sparse lower eyelashes, Lacrimation abnormality, Abnormal hair pattern, Highly arched... |
ORPHA:1807 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Ectod... |
OMIM:604292 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Upslanted palpebral fis... |
ORPHA:1794 |
Refsum Disease |
|
Cataract, Heart block, Splenomegaly, Cardiomyopathy, Nail dysplasia, Dry skin, Ptosis |
ORPHA:773 |
Bartsocas-Papas Syndrome |
|
Corneal opacity, Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Sparse or absent eyelas... |
ORPHA:1234 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Congenital abnormal hair pattern, Pneumonia, Corneal opacity, Cryptorchidism,... |
ORPHA:1867 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, Abnormal hair morphology, Bronchiectasis, Hypoplasia of t... |
OMIM:208900 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Scaling skin... |
OMIM:607602 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Epicanthus, Cataract, Abnormal nasolacrimal system morphology, Chorioretinal dyspla... |
ORPHA:2526 |
2Q24 Microdeletion Syndrome |
|
Cataract, Downslanted palpebral fissures, Abnormality iris morphology |
ORPHA:1617 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Upper eye... |
OMIM:167730 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Alopecia, Lack of faci... |
ORPHA:90156 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea... |
OMIM:608470 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,... |
OMIM:614941 |
Noonan Syndrome 5 |
|
Curly hair, Epicanthus, Sparse eyebrow, Cryptorchidism, Fine hair, Small nail, Pulmonic stenosis,... |
OMIM:611553 |
Juvenile Xanthogranuloma |
|
Hyphema, Uveitis, Asymmetry of iris pigmentation, Iritis, Blepharitis |
ORPHA:158000 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Peroxisome Biogenesis Disorder 14B |
|
Hydrocele testis, Dry skin, Developmental cataract |
OMIM:614920 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Psoriasiform lesion, Pneumonia, Erythema nodosum... |
OMIM:614700 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium |
OMIM:619339 |
Ichthyosis Vulgaris |
|
Eczematoid dermatitis, Absent keratohyalin granules, Dry skin |
OMIM:146700 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Parakeratosis, Epidermal acanthosis, Sparse eyelashes, Thick hair, Portal hypertension,... |
OMIM:607626 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Ectod... |
OMIM:129900 |
Lacrimoauriculodentodigital Syndrome |
|
Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Hypoplasia of the l... |
ORPHA:2363 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Almond-shaped palpebral fissure, Abnormal hair whorl, Synophrys, Low posterior hairline, Upslante... |
OMIM:300860 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Lacrimation abnormality, Uveal ectropion, Abnormal ... |
ORPHA:98973 |
Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Li... |
ORPHA:1791 |
Lacrimal Duct Defect |
|
Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele, Epiphora |
OMIM:149700 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia |
ORPHA:95433 |
Scalp-Ear-Nipple Syndrome |
|
Anisocoria, Supraventricular tachycardia, Sparse hair, Iris coloboma, Pyelonephritis, Patchy alop... |
OMIM:181270 |
Rotor Syndrome |
|
Conjunctival icterus, Jaundice, Intermittent jaundice |
ORPHA:3111 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Onycholysis, Nail dystrophy, Scaling skin, Erythroderma, Palmoplantar hyperhidrosis |
OMIM:270300 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Acquired Ichthyosis |
|
Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dry skin |
ORPHA:454 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Tortuosity of conjunctival vessels |
OMIM:613728 |
Rapp-Hodgkin Syndrome |
|
Ptosis, Absent lacrimal punctum, Decreased number of sweat glands, Sparse eyelashes, Slow-growing... |
OMIM:129400 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Abnormal fingernail morphology, Maculopap... |
ORPHA:79147 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Erythema, Scaling skin |
OMIM:617571 |
Tangier Disease |
|
Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Hepatosplenome... |
ORPHA:31150 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, Myopic ast... |
OMIM:152950 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Abnormality... |
ORPHA:47 |
Alacrima, Congenital, Autosomal Dominant |
|
Punctate corneal epithelial erosions, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Alacri... |
OMIM:103420 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Epicanthus, Highly arched eyebrow, Long eyelashes, Chronic otitis media, Pulmonary arterial hyper... |
ORPHA:261279 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Scaling skin on fingertip, Epidermal acanthosis, Parakeratosis, Palmoplantar hyperkerat... |
ORPHA:79395 |
Mucolipidosis Type Iii |
|
Acne, Corneal opacity |
ORPHA:577 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Epicanthus, Sinusitis, Recurrent pneumonia, Bronchiectasis, Upslante... |
OMIM:251260 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Elbow hypertrichosis, Epicanthus, Eczema, Long eyelashes, Dry skin, Downslanted palpebral fissures |
OMIM:620191 |
Costello Syndrome |
|
Deep-set nails, Keratoconus, Epicanthus, Abnormal fingernail morphology, Redundant skin, Concave ... |
ORPHA:3071 |
Retinal Capillary Malformation |
|
Vitreous hemorrhage, Retinal capillary hemangioma, Hyphema |
ORPHA:71213 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... |
OMIM:600376 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Red eye, Posterior synechiae of the anterior chamber, Con... |
ORPHA:280921 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Epicanthus, Conjunctival hyperemia |
OMIM:619548 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Lacrimation abnormality, Hypohidrosis |
ORPHA:1484 |
Jung Syndrome |
|
Telecanthus, Dry skin, Hypothyroidism, Low posterior hairline |
ORPHA:2321 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Skin ulcer, Fine hair, ... |
ORPHA:978 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Abnormal hair morphology,... |
ORPHA:634 |
Omenn Syndrome |
|
Alopecia, Pneumonia, Splenomegaly, Thyroiditis, Lymphadenopathy, Erythroderma, Dry skin, Hypothyr... |
ORPHA:39041 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Abnormal conjunctiva morphology |
OMIM:602248 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Cataract, Epicanthus, Abnormality of hair texture, Cryptorchidism, Upsl... |
ORPHA:96169 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pneumonia, Bronchiectasis, ... |
OMIM:618282 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, Telecanthus, White eyelashes, White eyebrow, Lacrimation abnormality, A... |
ORPHA:894 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Corneal opacity, Redundant skin, Abnormal hair pattern, Absent eyelas... |
ORPHA:920 |
Acral Peeling Skin Syndrome |
|
Erythema, Eczema, Scaling skin, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Cryptorchidism, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hyp... |
OMIM:618815 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage |
ORPHA:90050 |
Microtriplication 11Q24.1 |
|
Keratoconus, Synophrys, Upslanted palpebral fissure, Long eyelashes, Thick eyebrow |
ORPHA:289522 |
Incontinentia Pigmenti |
|
Uveitis, Hyperhidrosis, Abnormal toenail morphology, Infectious encephalitis, Abnormality of the ... |
ORPHA:464 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Curly hair, Epicanthus, Lacrimal duct stenosis, Sparse eyebrow, Cryptorchid... |
OMIM:619745 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Alopecia, Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Sparse hair, Fragi... |
OMIM:242150 |
Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Ort... |
OMIM:607936 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Epidermal acanthosis, Scaling skin |
OMIM:617115 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Cataract, Sparse eyelashes, Cryptorchidism, Pterygium of nails... |
OMIM:305000 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Radio-Tartaglia Syndrome |
|
Thick eyebrow, Epicanthus, Highly arched eyebrow, Long eyebrows, Synophrys, Low anterior hairline... |
OMIM:619312 |
Sunct Syndrome |
|
Palpebral edema, Episodic hyperhidrosis, Hyperhidrosis, Increased tear production, Conjunctival h... |
ORPHA:57145 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cataract, Tortuosity of conjunctival vessels, Ptosis |
ORPHA:284289 |
Harel-Yoon Syndrome |
|
Upslanted palpebral fissure, Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract |
OMIM:617183 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Postural hypotension with compensatory tachycardia, Osteomyelitis, Anhidrosis,... |
OMIM:256800 |
Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Cryptorchidism, Small nail, Blepharophimosis... |
OMIM:619075 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Sympathetic Ophthalmia |
|
Alopecia, Cataract, Poliosis, Erythema, Retinal hemorrhage, Anterior chamber cells, Posterior syn... |
ORPHA:79098 |
Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Dry skin, Scaling skin |
OMIM:612952 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Bazex Syndrome |
|
Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin |
ORPHA:166113 |
Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Scaling skin |
ORPHA:90158 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Chorioretinal atrophy, Nasolacrimal duct obstruction, Developmental catar... |
OMIM:612109 |
22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Hypoplasia of the thymus, Chronic otitis media, Hypothyroidism, Hypop... |
ORPHA:567 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Flynn-Aird Syndrome |
|
Alopecia, Cataract, Primary adrenal insufficiency, Skin ulcer |
ORPHA:2047 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Trichothiodystrophy |
|
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Microcornea, Conjunctivitis, Tige... |
ORPHA:33364 |
Intermediate Uveitis |
|
Anterior uveitis, Psoriasiform dermatitis, Cataract, Band keratopathy, Vasculitis, Tubulointersti... |
ORPHA:279914 |
Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Scarring alopecia of scalp, Splenomegaly, Loss of eyelashes,... |
ORPHA:79277 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia |
OMIM:606002 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Lymphangioma, Splenomegaly, Abnormality of the... |
ORPHA:464329 |
Adiposis Dolorosa |
|
Recurrent skin infections, Telangiectasia of the skin, Sparse axillary hair, Sparse pubic hair, X... |
ORPHA:36397 |
Familial Melanoma |
|
Abnormal hair morphology, Dry skin, Neoplasm of the pancreas, Abnormality of the lymphatic system |
ORPHA:618 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Dilated cardiom... |
OMIM:610768 |
Lupus Erythematosus Tumidus |
|
Cutaneous photosensitivity, Deep dermal perivascular inflammatory infiltrate, Scaling skin |
ORPHA:90283 |
Hatipoglu Immunodeficiency Syndrome |
|
Anhidrosis, Eczema, Poor wound healing, Cryptorchidism, Atopic dermatitis, Dry skin, Premature gr... |
OMIM:620331 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis |
ORPHA:464318 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Corneal opacity, Thick hair, Progeroid facial appearance, Excessive wrinkled skin, Abnormal corne... |
ORPHA:357058 |
Prolidase Deficiency |
|
Abnormal fingernail morphology, Splenomegaly, Erythema, Low anterior hairline, Crusting erythemat... |
ORPHA:742 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin, Chorioretinal coloboma |
OMIM:218650 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Chronic oral candidiasis, Psoriasiform dermatitis, Eczema, Enlarged tonsils, Thyroiditis, Hepatos... |
OMIM:606367 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Cutis marmorata, Mediastinal lymphadenopathy, Splen... |
ORPHA:91138 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Keratitis, Corneal erosion, Hypohidrosis, Palmoplantar keratoderma, Erythroderma, Abnor... |
ORPHA:79394 |
Distal Deletion 6P |
|
Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of... |
ORPHA:96125 |
Bartsocas-Papas Syndrome 1 |
|
Cicatricial lagophthalmos, Bilateral cryptorchidism, Ankyloblepharon, Pterygium, Absent eyebrow, ... |
OMIM:263650 |
Blau Syndrome |
|
Xerostomia, Large vessel vasculitis, Posterior uveitis, Abnormal salivary gland morphology, Retro... |
ORPHA:90340 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Angular cheiliti... |
OMIM:613102 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperhidrosis, Palmoplantar hyp... |
OMIM:615598 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Dermatoosteolysis, Kirghizian Type |
|
Keratitis, Osteoarthritis, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dystrophi... |
ORPHA:1657 |
Uv-Sensitive Syndrome 3 |
|
Cutaneous photosensitivity, Dry skin, Telangiectasia |
OMIM:614640 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Hyphema, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anteri... |
OMIM:221900 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Epicanthus, Keratoglobus, Astigmatism, Blepharophimosis, Ptosis |
OMIM:108145 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Urticaria, Arthritis, Conjunctivitis, Lymphadenopathy |
OMIM:617772 |
Uv-Sensitive Syndrome 1 |
|
Cutaneous photosensitivity, Dry skin, Telangiectasia |
OMIM:600630 |
Isolated Congenital Alacrima |
|
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... |
ORPHA:91416 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Highly arched eyebrow, Cryptorchidism, Decreased corneal thickness, Decreased testicular size, Hi... |
ORPHA:293967 |
Koolen-De Vries Syndrome |
|
Ptosis, Epicanthus, Cataract, Eczema, Abnormality of hair texture, Cryptorchidism, Dry skin, Upsl... |
OMIM:610443 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Leukonychia Totalis |
|
Abnormal fingernail morphology, Abnormal eyelash morphology, Adenoma sebaceum, Abnormal toenail m... |
ORPHA:2387 |
Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... |
OMIM:610655 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Epicanthus, Supernumerary nipple, Abnormal eyelid morphology, Cryptorchidism, Hypothyroidism, Apl... |
ORPHA:1812 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Cryptorchidism, Hypohidrosis, Hyperkeratosis, Testicular seminoma |
ORPHA:281090 |
Ataxia-Photosensitivity-Short Stature Syndrome |
|
Urticaria, Cutaneous photosensitivity, Dry skin |
ORPHA:1184 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology, Corneal opacity, Cryptorchidism, Eyelid coloboma, Iris ... |
ORPHA:1647 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Darier's sign, Urticaria, Lymphadenopathy... |
ORPHA:79456 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion |
ORPHA:411777 |
Amyloidosis, Primary Localized Cutaneous, 3 |
|
Cutaneous photosensitivity, Dry skin |
OMIM:617920 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Alopecia, Myositis, Pericarditis, Skin rash, An... |
ORPHA:93672 |
Ichthyosis, X-Linked |
|
Testicular neoplasm, Cryptorchidism, Hypohidrosis, Palmoplantar keratoderma, Opacification of the... |
OMIM:308100 |
Anonychia With Flexural Pigmentation |
|
Anonychia, Dry skin |
OMIM:106750 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Dry skin, Downslanted palpebral fissures |
ORPHA:1035 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Epicanthus, Highly arched eyebrow, Elevated circulating luteinizing hormone lev... |
OMIM:618419 |
Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis, Erythroderma |
OMIM:113800 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Cataract, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Recurrent pneumoni... |
OMIM:234100 |
Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo... |
ORPHA:90354 |
Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Dry skin, Hypothyroidism |
OMIM:275120 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive... |
OMIM:187300 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Cryptorchidism, Upslanted palpebral fissure, Hypertrophic cardiomyopathy |
ORPHA:496790 |
Leprosy |
|
Absent eyebrow, Alopecia, Epistaxis, Abnormality of the spleen, Loss of eyelashes, Penetrating fo... |
ORPHA:548 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Corneal astigmatism, Abnormal lacrimal sac morphology, Ectropi... |
ORPHA:141083 |
Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity, Splenomegaly, Coarse hair, Thick eyebrow |
ORPHA:585 |
Bare Lymphocyte Syndrome, Type I |
|
Ectopia lentis, Bronchiectasis, Skin ulcer, Chronic otitis media, Chronic sinusitis |
OMIM:604571 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:204100 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Redundant skin, Sparse hair, Dystrophic fingernails, Abnormal eyelash morphology, C... |
ORPHA:1340 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hypohidrosis, Hyperkeratosis, On... |
ORPHA:1028 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Squalene Synthase Deficiency |
|
Epicanthus, Bilateral cryptorchidism, Abnormality of hair pigmentation, Dry skin, Cutaneous photo... |
OMIM:618156 |
8Q21.11 Microdeletion Syndrome |
|
Ptosis, Epicanthus, Cataract, Corneal opacity, Eczema, Sclerocornea, Cryptorchidism, Blepharophim... |
ORPHA:284160 |
Leber Congenital Amaurosis 4 |
|
Keratoconus, Attenuation of retinal blood vessels |
OMIM:604393 |
Pterygium Of Conjunctiva And Cornea |
|
Abnormal conjunctiva morphology, Pterygium |
OMIM:178000 |
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin |
ORPHA:2271 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Red eye, Anisocoria, Posterior synec... |
ORPHA:263479 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Hyperkeratosis, Erythema, Dry skin, Scaling skin |
OMIM:614457 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Cataract, Corneal opacity, Developmental cataract, Telangiectasia, Hepatosplenomega... |
ORPHA:93400 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Low anterior hairline, Corneal opacity |
OMIM:613153 |
Hydroa Vacciniforme |
|
Keratitis, Epiphora |
ORPHA:330058 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Hirsutism, Woolly hair, Dry skin, B... |
OMIM:619244 |
Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Cor... |
OMIM:148210 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Anhidrosis, Alopecia, Epidermal acanthosis, Thin nail, Abnormal hair morphology, Erythema, Hypohi... |
OMIM:242100 |
Fucosidosis |
|
Anhidrosis, Petechiae, Angiokeratoma, Splenomegaly, Bruising susceptibility, Tortuosity of conjun... |
OMIM:230000 |
Psoriasis 2 |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin |
OMIM:602723 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Congenital Rubella Syndrome |
|
Cataract, Skin rash, Corneal opacity, Splenomegaly, Jaundice, Aplasia/Hypoplasia of the iris |
ORPHA:290 |
Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Abnormal eyelid morphology, Low anterior hairline, Upper eyelid coloboma, Coarse ha... |
ORPHA:2095 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Acrokeratosis Verruciformis |
|
Ridged nail, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Epidermal acanthosis |
OMIM:101900 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ta... |
ORPHA:39812 |
Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Anhidrosis, Decreased number of sweat glands, Punctate palmoplantar hyp... |
ORPHA:69087 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Lagophthalmos, Splenomegaly, Bilateral ptosis, Corneal scarring, Corneal neovascularization |
ORPHA:404454 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Vasculitis, Lymphadenopathy, Hematochez... |
OMIM:617718 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, ... |
OMIM:305100 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Symblepharon, Recurrent loss of toenails and fingernails, Skin ulcer, Nail dystrophy, Corneal pte... |
OMIM:245660 |
Heme Oxygenase 1 Deficiency |
|
Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Hype... |
OMIM:614034 |
Tularemia |
|
Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology, ... |
ORPHA:3392 |
Gapo Syndrome |
|
Keratoconus, Prominent scalp veins, Alopecia, Epicanthus, Sparse eyelashes, Redundant skin, Spars... |
OMIM:230740 |
Reynolds Syndrome |
|
Skin rash, Telangiectasia of the skin, Jaundice, Xerostomia, Skin ulcer, Arthritis, Keratoconjunc... |
ORPHA:779 |
Prolidase Deficiency |
|
Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Diffuse telangiectas... |
OMIM:170100 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Small pitui... |
OMIM:614195 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:204000 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Sparse scalp hair, Ptosis, Cataract, Abnormal fingernail morphology, Eczema, ... |
ORPHA:235 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... |
ORPHA:87503 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Alpha-Mannosidosis |
|
Cataract, Corneal opacity, Splenomegaly, Arthritis, Chronic otitis media, Generalized abnormality... |
ORPHA:61 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity, Telecanthus |
ORPHA:1064 |
Retinitis Pigmentosa |
|
Keratoconus, Cataract, Abnormal testis morphology, Abnormal retinal vascular morphology |
ORPHA:791 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Iris col... |
OMIM:615145 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Epicanthus, Splenomegaly, Hypohidrosis, Hyperkeratosis, Inflammation of the large intestine, Dry ... |
OMIM:614576 |
Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Salivary gland neoplasm, Skin ulcer, Abnormality of the submandibular gl... |
ORPHA:79493 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Rodrigues Blindness |
|
Sclerocornea, Fine hair, Microcornea, Ectodermal dysplasia, Sparse hair |
OMIM:268320 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Eczema, Pustule, Erythema, Xerostomia, Skin ulcer, Keratoconjunctivit... |
ORPHA:2907 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Persistent pupillary membrane, Woolly sca... |
ORPHA:79414 |
Microphthalmia, Syndromic 16 |
|
Ankyloblepharon, Sclerocornea |
OMIM:611038 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Conjunctival icterus, Jaundice, Splenomegaly, Hepatitis, Pallor, Cholelithiasis |
OMIM:194380 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, Corneal perforation... |
ORPHA:289390 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Telecanthus, Redundant neck skin, Corneal opacity, Cryptorchidism, Abnormal left ventricular func... |
OMIM:301056 |
Proliferating Trichilemmal Cyst |
|
Sparse scalp hair, Skin ulcer |
ORPHA:492 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Hypohidrotic ectodermal dysplasia, Sparse ... |
OMIM:614940 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Palmoplantar hyperhidrosis, Pal... |
OMIM:150400 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail ... |
OMIM:242300 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Iridocyclitis, Oligoar... |
ORPHA:85436 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
Sialidosis Type 2 |
|
Splenomegaly, Corneal opacity |
ORPHA:87876 |
X-Linked Intellectual Disability, Nascimento Type |
|
Lumbar hypertrichosis, Recurrent cutaneous abscess formation, Abnormal hair whorl, Synophrys, Cry... |
ORPHA:163956 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Decreased lacrimation, Corneal ulceration, Corneal scarring, Hypohidrosis |
OMIM:616488 |
Paroxysmal Hemicrania |
|
Conjunctival hyperemia, Palpebral edema, Epiphora, Ptosis |
ORPHA:157835 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis |
OMIM:620148 |
Zellweger Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Abnormal chorioretinal morphology, Brushfield spots, Crypt... |
ORPHA:912 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Hypertension, Aniridia, Downslanted palpebral fissures, Decreased test... |
OMIM:612469 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Lip telangiectasia, Tortuosity of conjunctival vessels, Angiok... |
OMIM:609242 |
Atrophoderma Vermiculata |
|
Heart block, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic p... |
ORPHA:79100 |
Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Cataract, Hyperkeratosis, Abnormal cornea morphology, Iris coloboma |
ORPHA:2611 |
Cornelia De Lange Syndrome |
|
Cataract, Cutis marmorata, Curly eyelashes, Highly arched eyebrow, Cryptorchidism, Synophrys, Low... |
ORPHA:199 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnormality of the parathy... |
ORPHA:2969 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, ... |
OMIM:613001 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
9P13 Microdeletion Syndrome |
|
Epicanthus, Hyperconvex nail, Highly arched eyebrow, Hypoplastic toenails, Recurrent otitis media... |
ORPHA:324313 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Epidermal acanthosis, Fragile skin |
OMIM:615028 |
Paroxysmal Extreme Pain Disorder |
|
Lacrimation abnormality |
OMIM:167400 |
Werner Syndrome |
|
Sparse scalp hair, Cataract, Prematurely aged appearance, Telangiectasia of the skin, Myocardial ... |
ORPHA:902 |
Hajdu-Cheney Syndrome |
|
Telecanthus, Cataract, Abnormal fingernail morphology, Mitral stenosis, Splenomegaly, Synophrys, ... |
ORPHA:955 |
Acrogeria |
|
Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Fine hair, Excessive wrinkle... |
ORPHA:2500 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Choriocapillaris atrophy, Cataract, Chorioretinal atrophy |
OMIM:613835 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
Naxos Disease |
|
Prolonged QRS complex, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebrow, Diffuse pa... |
OMIM:601214 |
Incontinentia Pigmenti |
|
Ridged nail, Uveitis, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alopecia, Alopecia, Macu... |
OMIM:308300 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Raynaud phe... |
ORPHA:90280 |
Unilateral Ocular Duplication |
|
Abnormal eyebrow morphology, Abnormal pupil morphology, Microcornea, Blepharophimosis, Iris coloboma |
ORPHA:3374 |
Pterygium, Antecubital |
|
Antecubital pterygium |
OMIM:178200 |
Plague |
|
Chapped lip, Tachycardia, Skin rash, Erythema nodosum, Lymphadenitis, Hematemesis, Splenomegaly, ... |
ORPHA:707 |
Huriez Syndrome |
|
Lack of skin elasticity, Palmoplantar keratoderma, Small nail, Dry skin, Abnormality of the nail |
ORPHA:384 |
Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Dry skin, Scaling skin, Erythroderma |
OMIM:609180 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Lacrimation abnormality, Syno... |
ORPHA:3440 |
Chilblain Lupus 1 |
|
Raynaud phenomenon, Chilblains, Abnormality of the nail, Skin ulcer |
OMIM:610448 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, R... |
ORPHA:36234 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Anhidrosis, Eczema, Thin nail, Astigmatism, Sparse hair, Dry skin |
OMIM:617799 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Epicanthus, Synophrys, Upslanted palpebral fissure, Hydrocele testis, Blepharitis, Pulmonary arte... |
ORPHA:280633 |
Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Eczema |
ORPHA:2101 |
Spinocerebellar Ataxia Type 34 |
|
Urticaria, Dry skin, Hypohidrosis |
ORPHA:1955 |
Familial Cold Urticaria |
|
Erythema, Hyperhidrosis, Urticaria, Arthritis, Conjunctivitis |
ORPHA:47045 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Corneal opacity |
OMIM:607016 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Cataract, Abnormal fingernail morphology, Adrenal hyperplasia, Prim... |
ORPHA:3453 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Ectropion, Cryptorchidism, Ocular albinism, ... |
ORPHA:2719 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Hepatosplenomegaly, Generalized hypertrichosis, Cherry red spot of the... |
ORPHA:93399 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Microcorne... |
OMIM:234050 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
3Mc Syndrome 3 |
|
Corneal opacity, Highly arched eyebrow, Cryptorchidism, Blepharophimosis, Epicanthus inversus, Pt... |
OMIM:248340 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Cryptorchidism, Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
Lowry-Maclean Syndrome |
|
Corneal opacity, Bilateral cryptorchidism, Developmental glaucoma, Generalized hypertrichosis, Me... |
ORPHA:2409 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin |
OMIM:105250 |
Amoebic Keratitis |
|
Anterior uveitis, Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Splenomegaly, Hyperkeratosis, Cherry red spot of the macula, Vascular ... |
ORPHA:812 |
Free Sialic Acid Storage Disease |
|
Splenomegaly, Skin ulcer, Iris hypopigmentation |
ORPHA:834 |
Chime Syndrome |
|
Epicanthus, Corneal opacity, Erythema, Skin ulcer, Fine hair, Upslanted palpebral fissure, Hyperk... |
ORPHA:3474 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Raynaud phenomen... |
OMIM:611773 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic... |
OMIM:618131 |
Alacrima, Congenital, Autosomal Recessive |
|
Punctate corneal epithelial erosions, Alacrima |
OMIM:601549 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Conjunctival hyperemia, Inte... |
ORPHA:99826 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Impaired sensitivity to thyroid hormone, Dry skin, Increased T3/T4 ratio, Congenital hypothyroidism |
OMIM:614450 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pustule, Erythema, Crusting erythematous dermatitis, Scali... |
ORPHA:79481 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity, Splenomegaly, Mitral regurgitation, Pulmonary arterial hyp... |
OMIM:607015 |
Oculoauriculofrontonasal Syndrome |
|
Limbal dermoid, Upper eyelid coloboma |
ORPHA:398156 |
Chondroectodermal Dysplasia With Night Blindness |
|
Abnormal hair morphology, Nail dystrophy, Epiphora, Hyperhidrosis |
ORPHA:319195 |
Complex Regional Pain Syndrome |
|
Abnormality of hair growth, Erythema, Slow-growing nails, Dry skin |
ORPHA:83452 |
Perlman Syndrome |
|
Hepatomegaly, Epicanthus, Cryptorchidism, Abnormal pancreas morphology, Ptosis |
ORPHA:2849 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhag... |
OMIM:175780 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Psoriasiform lesion, Hepatosplenomegaly, Lymphadenopathy, Erythroderma |
ORPHA:169154 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Epidermal acanthosis, Pustule, Recurrent pneumonia, Hypertension, Long eyelashes |
OMIM:616069 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Corneal opacity |
OMIM:166300 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Anhidrosis, Dry hair, Prematurely aged appearance, Progeroid... |
OMIM:133540 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Cryptophthalmos |
OMIM:615877 |
De Barsy Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Progeroid facial appearance, Cryptorchidism, Prominent vei... |
ORPHA:2962 |
Hurler Syndrome |
|
Aortic regurgitation, Corneal opacity, Bilateral ptosis, Splenomegaly, Enlarged tonsils, Hepatosp... |
OMIM:607014 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... |
OMIM:608710 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Almond-shaped palpebral fissure, Nail dystrophy, Hypoplastic nipples, Small nail, Recurrent otiti... |
ORPHA:261323 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Epicanthus, Upslanted palpebral fissure |
ORPHA:401777 |
Congenital Lethal Erythroderma |
|
Urticaria, Congenital exfoliative erythroderma, Dry skin |
ORPHA:1954 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Reduced radioactive iodine uptake, Abnormality of thyroid physiology, Prolonged neonatal jaundice... |
ORPHA:95715 |
Fish-Eye Disease |
|
Splenomegaly, Angina pectoris, Corneal opacity, Lymphadenopathy |
ORPHA:79292 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma, Polycystic ovaries |
ORPHA:1643 |
Basan Syndrome |
|
Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrophy, Palmoplanta... |
OMIM:129200 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Recurrent pneumonia, Cheilitis, Hypohidrosis, Palmoplanta... |
ORPHA:158668 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of the tonsil... |
ORPHA:229717 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Conju... |
OMIM:240500 |
Farber Disease |
|
Corneal opacity, Hepatosplenomegaly, Lymphadenopathy, Arthritis, Abnormal conjunctiva morphology,... |
ORPHA:333 |
Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Corneal opacity, Developmental cataract, Cutis laxa, Premature skin wrinkli... |
OMIM:616603 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Cranioectodermal Dysplasia 3 |
|
Telecanthus, Short nail, Broad nail, Cutis laxa, Fine hair, Ectodermal dysplasia, Sparse hair, Dr... |
OMIM:614099 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Uve... |
OMIM:186580 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Conjunctivitis |
OMIM:603552 |
Thyroid Dyshormonogenesis 1 |
|
Dry skin, Hypothyroidism, Goiter |
OMIM:274400 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Nail-Patella Syndrome |
|
Ridged nail, Keratoconus, Ptosis, Cataract, Glomerulonephritis, Concave nail, Antecubital pterygi... |
OMIM:161200 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Entropion, Sudden cardiac death, Acantholysis, Corneal erosion, Eryt... |
ORPHA:537 |
Neuhauser Syndrome |
|
Iridodonesis, Epicanthus, Low anterior hairline, Hypoplasia of the iris, Primary hypothyroidism, ... |
OMIM:249310 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Aortic regurgitation, Progeroid facial appearance, Cutis laxa, Hypertension, Astigma... |
OMIM:208050 |
Tyrosinemia Type 2 |
|
Corneal opacity, Hyperhidrosis, Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail |
ORPHA:28378 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Corneal opacity, Erythema, Cheilitis, Hyperkeratosis, Inflammation of ... |
ORPHA:2908 |
Mpdu1-Cdg |
|
Eczema, Scaling skin, Decreased response to growth hormone stimulation test |
ORPHA:79323 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Barber-Say Syndrome |
|
Telecanthus, Absent nipple, Sparse eyelashes, Redundant skin, Ectropion, Sparse eyebrow, Epibleph... |
OMIM:209885 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Trichiasis, Acantho... |
ORPHA:95455 |
Juvenile Hyaline Fibromatosis |
|
Abnormal hair morphology, Skin ulcer |
ORPHA:2028 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Downslanted palpebral fissures, Decreased response to growth hormone stimulation test, ... |
OMIM:601853 |
Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Cutaneous photosensitivity, V... |
ORPHA:163525 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Subcutaneous hemorrhage, Chorioretinal atrophy, Arthritis, Co... |
ORPHA:448237 |
Dermatomyositis |
|
Abnormal hair quantity, Pericarditis, Sinus tachycardia, Telangiectasia of the skin, Myocardial i... |
ORPHA:221 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Cutis marmorata, Recurrent pneumonia, Bronchiectasis, Corneal scarring, Hypohidrosis, Hyperkerato... |
OMIM:301220 |
Alagille Syndrome |
|
Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Cryptorchidism, Abnormal pupil morpho... |
ORPHA:52 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Epicanthus, Telecanthus, Telangiectasia, Frontal upsweep of hair, Axenfeld anomaly, Opacification... |
OMIM:612582 |
Acral Self-Healing Collodion Baby |
|
Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber |
OMIM:618880 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Uveitis, Urticaria, Arthritis, Conjunctivitis |
OMIM:120100 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, Whit... |
OMIM:604777 |
Juvenile Temporal Arteritis |
|
Vasculitis, Conjunctivitis, Allergic rhinitis, Cerebral ischemia |
ORPHA:26137 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Anhidrosis, Fasciitis, Osteomyelitis, Bruising susceptibility, Corneal scarring, Hyperhidrosis, A... |
ORPHA:642 |
Lujo Hemorrhagic Fever |
|
Shock, Elevated circulating C-reactive protein concentration, Excessive bleeding after a venipunc... |
ORPHA:319213 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Congenital hypothyroidism, Bradycardia, Prolonged neonatal jaundice, Decreased circulating T4 con... |
ORPHA:226313 |
Sheehan Syndrome |
|
Orthostatic hypotension, Decreased circulating cortisol level, Sparse axillary hair, Hashimoto th... |
ORPHA:91355 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Sclerocornea, Cryptorchidism, Microcornea, Nail dysplasia, Chorioretinal coloboma, Iris... |
ORPHA:139471 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Buerger Disease |
|
Acrocyanosis, Vasculitis, Skin ulcer, Hyperhidrosis |
ORPHA:36258 |
Xfe Progeroid Syndrome |
|
Prematurely aged appearance, Corneal scarring, Hypertension, Cutaneous photosensitivity, Dry skin... |
OMIM:610965 |
Fucosidosis |
|
Corneal opacity, Hypothyroidism, Vascular skin abnormality, Hyperhidrosis, Acrocyanosis, Generali... |
ORPHA:349 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization |
OMIM:193235 |
Takayasu Arteritis |
|
Increased inflammatory response, Myocardial infarction, Vasculitis, Skin ulcer, Hyperhidrosis, Ar... |
ORPHA:3287 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Foot osteomyelitis, Osteomyelitis, Acral ulceration, Cataract |
OMIM:162400 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Tremor, Blepharospasm, Dystonia, Conjunctival hyperemia, Decreased lacrimation |
ORPHA:240071 |
Dowling-Degos Disease 4 |
|
Epidermal acanthosis |
OMIM:615696 |
Muckle-Wells Syndrome |
|
Conjunctival hyperemia, Conjunctivitis, Recurrent aphthous stomatitis, Maculopapular exanthema |
OMIM:191900 |
Epidermolytic Palmoplantar Keratoderma |
|
Abnormal fingernail morphology, Epidermal acanthosis, Epidermal hyperkeratosis, Diffuse palmoplan... |
ORPHA:2199 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Dry skin, Hypertrichosis, Onychauxis |
OMIM:262190 |
Oculoectodermal Syndrome |
|
Epicanthus, Transient ischemic attack, Supernumerary nipple, Chorioretinal atrophy, Pineal cyst, ... |
OMIM:600268 |
1Q41Q42 Microdeletion Syndrome |
|
Upslanted palpebral fissure, Cryptorchidism, Abnormality iris morphology, Small nail |
ORPHA:250999 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Prominent superficial veins, Sparse eyelashes, Progeroid facial appe... |
OMIM:614008 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Erythema, Epididymitis, Arthritis, Chorioret... |
OMIM:109650 |
Radial Heads, Posterior Dislocation Of |
|
Antecubital pterygium |
OMIM:179200 |
Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Telecanthus, Blepharophimosis, Abnormal conjunctiva morphology, Eyelid coloboma, Limb... |
ORPHA:3339 |
Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Splenomegaly, Vasculitis, Uveitis, Urticaria, Arthritis, Conjunctivitis,... |
ORPHA:575 |
Mucopolysaccharidosis, Type Vii |
|
Epicanthus, Corneal opacity, Splenomegaly, Hirsutism, Cardiomyopathy, Coarse hair, Recurrent otit... |
OMIM:253220 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin... |
ORPHA:727 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Anhidrosis, Dry hair, Cataract, Prematurely aged appearance,... |
OMIM:216400 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Epidermal acanthosis, Cutis laxa |
ORPHA:79148 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Perianal erythema, Splenomegaly, Paronychia, Dry skin, Perioral erythema, Alopecia of scalp, Decr... |
OMIM:201100 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Skin rash, Maculopapular exanthema, Cervical lymphadenopat... |
OMIM:142680 |
Relapsing Polychondritis |
|
Episcleritis, Alopecia, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Eryt... |
ORPHA:728 |
Hurler Syndrome |
|
Corneal opacity, Angina pectoris, Abnormality of the tonsils, Splenomegaly, Cardiomyopathy, Hyper... |
ORPHA:93473 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Gastrointestinal hemorrhage, Epicanthus, Poor wound healing, Congestive heart failur... |
OMIM:225400 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Decreased circulating T4 concentration, Dry skin, Hypothyroidism |
OMIM:275100 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Recurrent skin infections, Corneal opacity, Erythema, Palmoplantar keratoderma, Nail dy... |
ORPHA:79396 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Cataract, Corneal dystrophy, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:1839 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Cataract, Corneal scarring, Conjunctivitis, Nail dystrophy, Nail dysplasia, Fragile skin |
OMIM:226600 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Fine hair, Narrow palpebral fissure, Dry skin, Downslanted palpebral fissures, Aplasia/Hypoplasia... |
ORPHA:2637 |
Tbck-Related Intellectual Disability Syndrome |
|
Epicanthus, Hyperthyroidism, Corneal opacity, Eczema, Decreased response to growth hormone stimul... |
ORPHA:488632 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Attenuated Chédiak-Higashi Syndrome |
|
Bruising susceptibility, Ocular albinism, Epistaxis, Skin ulcer |
ORPHA:352723 |
Lymphedema-Distichiasis Syndrome |
|
Cataract, Recurrent skin infections, Ectropion, Corneal erosion, Tubulointerstitial nephritis, Co... |
ORPHA:33001 |
Restrictive Dermopathy |
|
Telecanthus, Entropion, Generalized hyperkeratosis, Short nail, Epidermal hyperkeratosis, Sparse ... |
ORPHA:1662 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Cataract, Eczema, Congestive heart failure... |
ORPHA:508542 |
Gapo Syndrome |
|
Keratoconus, Alopecia, Sparse eyelashes, Prematurely aged appearance, Palpebral edema, Sparse eye... |
ORPHA:2067 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer |
ORPHA:2337 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Lacrimation abnormality |
ORPHA:1135 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Alopecia, Chronic active hepatitis, Atrophic gastritis, Cataract, Asplenia, I... |
OMIM:240300 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Cataract, Corneal opacity, Pneumonia, Hepatosplenomegaly |
ORPHA:309288 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Corneal opacity, Abnormality of the tonsils, Congestive heart failure, Splenomegaly, L... |
ORPHA:579 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Cataract, Abnormal location of the eyebrow, Corneal opac... |
ORPHA:141099 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Conjunctivitis, Recurrent sinusitis |
OMIM:613493 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis, Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, Orthokeratotic hy... |
OMIM:148700 |
Gm1 Gangliosidosis |
|
Corneal opacity, Abnormal retinal vascular morphology, Congestive heart failure, Splenomegaly, He... |
ORPHA:354 |
Aicardi-Goutières Syndrome |
|
Myositis, Cutis marmorata, Chilblains, Raynaud phenomenon, Developmental glaucoma, Hepatosplenome... |
ORPHA:51 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Epicanthus, Hypothyroidism, Hypoplasia of the iris, Astigmatism, Megalocornea, Abno... |
ORPHA:2479 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Small nail, Short palpebral fissure |
ORPHA:364577 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Anhidrosis, Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar keratode... |
ORPHA:659 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Epicanthus, Pterygium, Hypoplastic nipples, Multiple pterygia |
OMIM:177980 |
Congenital Factor Xii Deficiency |
|
Retinal arteriolar occlusion, Retinal vein occlusion, Penetrating foot ulcers |
ORPHA:330 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Corneal opacity, Corneal dystrophy, Sparse eyebrow, Cryptorchidism, Synophrys, Low... |
ORPHA:495875 |
Giant Cell Arteritis |
|
Alopecia, Pericarditis, Epistaxis, Sudden cardiac death, Mediastinal lymphadenopathy, Vasculitis,... |
ORPHA:397 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Conjunctivitis, Re... |
OMIM:607594 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
Branchio-Oculo-Facial Syndrome |
|
Cataract, Nasolacrimal duct obstruction, Premature graying of hair, Microcornea, Upslanted palpeb... |
ORPHA:1297 |
Riddle Syndrome |
|
Dry skin |
OMIM:611943 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media |
OMIM:601457 |
Otoonychoperoneal Syndrome |
|
Upslanted palpebral fissure, Popliteal pterygium, Abnormality of the nail |
ORPHA:2793 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Brushfield spots, Cryptorchidism, Jaundice, Upslanted palp... |
OMIM:214110 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, H... |
OMIM:269200 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, A... |
ORPHA:2396 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Downslanted palpebral fissures, Iris coloboma |
ORPHA:251038 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Cataract, Skin rash, Choroidal neovascularization, An... |
ORPHA:91500 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology |
ORPHA:33111 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosu... |
OMIM:616576 |
Scheie Syndrome |
|
Aortic regurgitation, Splenomegaly, Rhinitis, Corneal opacity |
ORPHA:93474 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Skin ulcer, Arthritis |
ORPHA:231 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Orthostatic hypotension, Cataract, Decrea... |
OMIM:606721 |
Mucolipidosis Type Iv |
|
Palmoplantar keratoderma, Corneal opacity |
ORPHA:578 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Absent lacrimal punctum, Lacrimal duct atresia, Lacrimal duct aplasia, Conjunctivitis, Alacrima |
OMIM:620192 |
Fusariosis |
|
Myositis, Sinusitis, Fasciitis, Maculopapular exanthema, Pneumonia, Osteomyelitis, Keratitis, Abn... |
ORPHA:228119 |
Olmsted Syndrome 2 |
|
Parakeratosis, Epidermal acanthosis, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkerato... |
OMIM:619208 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Prematurely aged appearance, Redundant skin, Myocardial infarction, Telangiectasia o... |
ORPHA:3342 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, First degree atrioventricular block, Conjunctival hyperemia, Jaundice... |
ORPHA:509 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Absent eyebrow, Alopecia, Prematurely aged appearance, Absent eyelashes... |
OMIM:264090 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Fragile skin |
ORPHA:542592 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Telecanthus, Cryptorchidism, Microcornea, Opacification of the corneal stroma, Anterior chamber s... |
OMIM:601499 |
Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein expression |
OMIM:247100 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Epicanthus, Cataract, Sparse eyelashes, Telecanthus, Fine hair, Microcornea, Persistent pupillary... |
OMIM:257850 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Anhidrosis, Anhidrotic ectodermal dysplasia, Splenomegaly, Hypohidrosis, Aplas... |
OMIM:612132 |
Premature Aging Syndrome, Penttinen Type |
|
Prominent superficial veins, Corneal opacity, Prematurely aged appearance, Palmoplantar hyperkera... |
OMIM:601812 |
Bone Marrow Failure Syndrome 4 |
|
Dry skin, Eczema |
OMIM:618116 |
Angelman Syndrome |
|
Keratoconus, Iris hypopigmentation, Astigmatism, Fair hair, Ptosis |
ORPHA:72 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Synophrys, Facial erythema, Scaling skin, ... |
OMIM:619503 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Corneal opacity |
OMIM:163200 |
Ddost-Cdg |
|
Dry skin, Primary hypothyroidism |
ORPHA:300536 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... |
ORPHA:48818 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Chronic gastritis, Myocardial infarction, Bilateral cryptorchidism, Redundant ... |
OMIM:150230 |
Chronic Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Prolonged neonatal jaundice |
ORPHA:529808 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Cryptorchidism, Downslanted palpebral fissures, Short palpebr... |
OMIM:614230 |
Acute Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Prolonged neonatal jaundice |
ORPHA:529799 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... |
OMIM:618052 |
Xeroderma Pigmentosum, Variant Type |
|
Entropion, Keratitis, Cutaneous telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectro... |
OMIM:278750 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Cataract, Developmental glaucoma, Penetrating foot ulcers, Buphthalmos, Ptosis |
ORPHA:99956 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Chorioretinal atrophy, P... |
ORPHA:364055 |
Immunodeficiency 46 |
|
Conjunctivitis, Chronic oral candidiasis |
OMIM:616740 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Epicanthus, Telecanthus, Pancreatic cysts, Hypertension, Coarse hair, Spa... |
ORPHA:2750 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormal lymph node morphology |
ORPHA:543 |
Ramos-Arroyo Syndrome |
|
Sparse scalp hair, Keratitis, Dacryocystitis, Chorioretinal atrophy, Nasolacrimal duct obstructio... |
ORPHA:1051 |
Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion... |
ORPHA:1764 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Epistaxis, Splenomegaly, Hepatosplenomegaly, Abnormal lymph node morphology, P... |
OMIM:612840 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Lacrimal gland aplasia, Telecanthus, Streak ovary, Ectropion, Duplicated lacrimal punctum, Highly... |
ORPHA:572333 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Cataract, Autoimmune hypoparathyroidism, Chronic mucocutaneous candidiasis... |
ORPHA:36913 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Sclerocornea, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Lacrimal duct a... |
OMIM:300952 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Attenuation of retinal blood vessels |
OMIM:608553 |
Trisomy 9P |
|
Hypoplastic toenails, Abnormal pupil morphology, Fingernail dysplasia, Downslanted palpebral fiss... |
ORPHA:236 |
Restrictive Dermopathy 1 |
|
Prominent superficial blood vessels, Entropion, Sparse eyelashes, Short nail, Epidermal hyperkera... |
OMIM:275210 |
Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis, Allergic rhinitis, Dermatographic urticaria, Follicular hyperkeratosis, Ery... |
OMIM:608649 |
Aicardi-Goutieres Syndrome 9 |
|
Acute pancreatitis, Pericarditis, Chilblains, Portal hypertension, Chorioretinal atrophy, Hepatos... |
OMIM:619487 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Scaling skin, Abno... |
ORPHA:3464 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ptosis, Telecanthus, Epicanthus, Highly arched eyebrow, Palmoplantar hyperkeratosis, Fine hair, H... |
OMIM:280000 |
Den Hoed-De Boer-Voisin Syndrome |
|
Widow's peak, Dry skin, Downslanted palpebral fissures, Thick eyebrow |
OMIM:619229 |
Crouzon Syndrome |
|
Conjunctivitis, Iris coloboma, Ptosis |
ORPHA:207 |
Frontonasal Dysplasia 2 |
|
Telecanthus, Sparse eyelashes, Alopecia totalis, Blepharophimosis, Bilateral cryptorchidism, Spar... |
OMIM:613451 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Epidermal acanthosis, Hypohidrosis, Hyperkeratosis, Erythroderma, Orthokeratosis, Ectropion |
OMIM:615023 |
Focal Dermal Hypoplasia |
|
Alopecia, Corneal opacity, Telangiectasia of the skin, Ectopia lentis, Erythema, Hypoplasia of th... |
ORPHA:2092 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Acrocraniofacial Dysostosis |
|
Telecanthus, Lacrimation abnormality, Downslanted palpebral fissures, Ptosis |
ORPHA:949 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Dry skin |
OMIM:618527 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Oculodentodigital Dysplasia |
|
Curly hair, Epicanthus, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Cataract... |
ORPHA:2710 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Splenomegaly, Angioedema, Uveitis, Lymphadenopathy, Arthritis, Conjuncti... |
ORPHA:36412 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrioventricular block, Abnormality of the orbital region, Polycystic ovaries, Arthritis, Hyperte... |
ORPHA:371428 |
Reticular Dysgenesis |
|
Chronic otitis media, Skin rash, Aplasia/Hypoplasia of the thymus, Skin ulcer |
ORPHA:33355 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Walker-Warburg Syndrome |
|
Cataract, Corneal opacity, Chorioretinal dysplasia, Cryptorchidism, Microcornea, Iris coloboma |
ORPHA:899 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Erythema, Vasc... |
ORPHA:32960 |
Autosomal Agammaglobulinemia |
|
Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepat... |
ORPHA:33110 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Cryptorchidism, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin |
OMIM:613990 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Cyanosis, Corneal opacity, Tachycardia, Atrial fi... |
ORPHA:137675 |
Xeroderma Pigmentosum, Complementation Group E |
|
Entropion, Keratitis, Telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectropion |
OMIM:278740 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Absent lacrimal punctum, Epicanthus, Absent eyelashes, Xerostomia, Lacrimal duct aplasia, Alacrima |
OMIM:620193 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Foot osteomyelitis, Acral ulceration, Skin ulcer |
ORPHA:139578 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Conjunctivitis, Chronic sinusitis |
OMIM:612692 |
Chand Syndrome |
|
Curly hair, Ankyloblepharon, Hypohidrosis, Nail dysplasia, Dry skin |
ORPHA:1401 |
Johanson-Blizzard Syndrome |
|
Absent lacrimal punctum, Alopecia, Lacrimation abnormality, Abnormal hair pattern, Exocrine pancr... |
ORPHA:2315 |
Collagenoma, Familial Cutaneous |
|
Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Pri... |
OMIM:115250 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Lymphadenopathy, Arthritis,... |
ORPHA:69126 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Eczema, Congestive heart failure, Hypotension, Arrhythm... |
ORPHA:428 |
Wilson Disease |
|
Splenomegaly, Jaundice, Hepatitis, Kayser-Fleischer ring, Arthritis, Acute hepatitis, Bruising su... |
ORPHA:905 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Hypopituitarism, Hypersplenism, High-output congestive heart failure, Jaundic... |
ORPHA:231226 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Kindler Syndrome |
|
Ridged nail, Telangiectasia of the skin, Symblepharon, Corneal erosion, Palmoplantar hyperkeratos... |
OMIM:173650 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Nasolacrimal duct obstruction, Ectodermal dysplasia, Hypoplastic nipples, Small nail, Sparse hair... |
OMIM:273400 |
Beta-Thalassemia |
|
Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis, Hypertrophic cardiomyopathy |
ORPHA:848 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Posterior synechiae of the anterior chamber, Developmental cataract |
OMIM:613154 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Abnormal hair morphology, Paronychia, Skin ulcer, Skin vesicle,... |
ORPHA:2314 |
Sarcoidosis |
|
Heart block, Ventricular tachycardia, Uveitis, Tubulointerstitial nephritis, Hypothyroidism, Alop... |
ORPHA:797 |
Mucopolysaccharidosis Type 3 |
|
Cataract, Corneal opacity, Thick hair, Adenoiditis, Splenomegaly, Synophrys, Recurrent tonsilliti... |
ORPHA:581 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hypopigmentation of hair, Brittle hair, Gastritis, Splenomegaly, Colitis, H... |
ORPHA:84064 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Axillary pterygium, Nail dystrophy, Nail dysplasia, Anonychia, Fragile skin, Ectropion |
OMIM:226730 |
Branchiootorenal Syndrome 1 |
|
Lacrimation abnormality, Lacrimal duct stenosis, Lacrimal duct aplasia, Euthyroid goiter, Gustato... |
OMIM:113650 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced radioactive iodine uptake, Reduced circulating prolactin concentration, Pituitary hypothy... |
ORPHA:99832 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Enlarged ovaries, Thick hair, Onychauxis, Hypothyroidism, Lo... |
ORPHA:769 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Corneal opacity, Cryptorchidism, Astigmatism, Congenital hypoparathyroidism |
ORPHA:2323 |
Mast Cell Sarcoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage |
OMIM:601813 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, A... |
ORPHA:85410 |
Dermatofibrosarcoma Protuberans |
|
Erythema, Skin ulcer |
ORPHA:31112 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Telangiectasia of the skin, Skin ulcer, Mucosal telangiectasiae |
ORPHA:220402 |
Spondylospinal Thoracic Dysostosis |
|
Multiple pterygia |
OMIM:601809 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Yellow nails, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions, Arrhythm... |
OMIM:153400 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Hypoplasia of eyelid, Redundant skin, Absent eyelashes, Hypoplastic n... |
OMIM:200110 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Nephropathy, Bence Jones Proteinuria, Lymphadenopathy |
ORPHA:100024 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Sparse eyelashes, Pterygium of nails, Nasolacrimal duct obstruction, Palmoplan... |
OMIM:224230 |
Hydroxykynureninuria |
|
Stomatitis, Tachycardia, Dry skin, Hypotension |
ORPHA:79155 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Osteomyelitis, Generalized hirsutism, Skin ulcer |
ORPHA:2218 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Upslanted palpebral fissure, Dry skin, Accessory spleen |
OMIM:619306 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Blepharophimosis, Abnormal pupil morpholo... |
ORPHA:233 |
Oculodentodigital Dysplasia |
|
Dry hair, Cataract, Slow-growing hair, Epicanthus, Blepharophimosis, Uveitis, Fine hair, Microcor... |
OMIM:164200 |
Shigellosis |
|
Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Urticaria, Arthritis, Hypovolem... |
ORPHA:810 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Chemosis, Nephritis, Infectious enceph... |
ORPHA:73263 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Ptosis, Redundant neck skin, Corneal opacity, Redundant skin, Prematurely a... |
ORPHA:90348 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Epidermal acanthosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokerat... |
OMIM:617525 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Pneumonia, Pustule, Skin ulcer, Arrhythmia, Corneal perforation, Conjunctival hyperemi... |
ORPHA:68 |
Ophthalmoplegia, Familial Static |
|
Anisocoria, Ptosis |
OMIM:165000 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Pustule, Erythema, Oli... |
OMIM:614204 |
Ameloonychohypohidrotic Syndrome |
|
Hypohidrosis, Dry skin, Onycholysis, Seborrheic dermatitis |
OMIM:104570 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ... |
OMIM:258360 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Poor wound healing, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis |
ORPHA:36386 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Subdural hemorrhage, Elevated circulating creatine kinase concentration |
OMIM:615368 |
Cystinosis |
|
Hypothyroidism, Corneal opacity, Portal hypertension |
ORPHA:213 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Scarring alopecia of scalp, Ectopia pupillae, Astigmatism, Unilateral narrow palpebral ... |
OMIM:618727 |
Eales Disease |
|
Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vitreous hemorrhage,... |
ORPHA:40923 |
Cockayne Syndrome Type 2 |
|
Progeroid facial appearance, Cryptorchidism, Uveitis, Developmental cataract, Conjunctivitis |
ORPHA:90322 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria, Alacrima |
OMIM:300858 |
Mosaic Trisomy 9 |
|
Corneal opacity, Asplenia, Cryptorchidism, Upslanted palpebral fissure, Small nail |
ORPHA:99776 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr... |
ORPHA:97339 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Epicanthus, Lacrimation abnormality, Low posterior hairline |
ORPHA:2916 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Hypohidrosis, Anisocoria, Hyperkeratosis, Adrenal insufficiency, High an... |
OMIM:615510 |
Phace Syndrome |
|
Cataract, Sclerocornea, Hypothyroidism, Lens coloboma, Abnormality of the orbital region, Retinal... |
ORPHA:42775 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Corneal opacity, Poor wound healing, Abnormality of the spleen,... |
ORPHA:2072 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Pulmonary arterial hypertension, Epicanthus, Chalazion |
OMIM:613355 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Apolipoprotein A-I Deficiency |
|
Xanthelasma, Angina pectoris, Opacification of the corneal stroma |
ORPHA:425 |
Xeroderma Pigmentosum, Complementation Group C |
|
Entropion, Keratitis, Telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectropion |
OMIM:278720 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ... |
ORPHA:542306 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Orthostatic hypotension, Decreased circulating cortisol level, Pituitary aden... |
ORPHA:199299 |
Xeroderma Pigmentosum, Complementation Group A |
|
Entropion, Keratitis, Telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectropion |
OMIM:278700 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Myocardial infarction, Osteoarthritis, Intracranial hemorrha... |
ORPHA:740 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Conjunctival icterus, Necrotizing enterocolitis, Pallor |
OMIM:606812 |
Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Vaginal hydrocele, Developmental... |
ORPHA:2119 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Palpebral edema, Cholangitis, Abnormal morphology of bony orbit of skull, Abnormal eye... |
ORPHA:449563 |
Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy, Long eyebrows, Widow's peak, Long eyelashes, Small nail, S-shaped palpebral fissure... |
OMIM:201180 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Transient ischemic attack, Abnormality of thyroid physiology, Minimal change glo... |
ORPHA:1830 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Arrhythmia, Psoriasiform lesion, Aortic valve stenosis |
OMIM:616298 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, S... |
OMIM:615559 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cryptorchidism, Pterygium, Cataract |
OMIM:224410 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Skin ulcer, Recurrent sinusiti... |
ORPHA:217390 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Corneal opacity, Pneumonia, Splenomegaly, Cardiomyopathy, Mitral regurgi... |
OMIM:253200 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Entropion, Myocardial infarction, Acantholysis, Sudden cardiac death... |
ORPHA:36426 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Polyarteritis Nodosa |
|
Pericarditis, Cutis marmorata, Raynaud phenomenon, Erythema, Skin ulcer, Cardiomyopathy, Hyperten... |
ORPHA:767 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Splenomegaly, Jaundice, Loss of eyelashes, Corneal scarring, Conjunctiv... |
OMIM:263700 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Corneal opacity, Hepatitis |
ORPHA:584 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Prominent scalp veins, Agenesis of pineal gland, Corneal opacity, Cryptorchidi... |
ORPHA:536471 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma |
OMIM:252605 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Uveitis, Developmental cataract |
OMIM:617044 |
Chronic Graft Versus Host Disease |
|
Alopecia, Fasciitis, Poor wound healing, Urinary bladder inflammation, Erythema, Xerostomia, Bron... |
ORPHA:99921 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Corneal opacity, Abnormal nasolacrimal system morphology, Sclerocornea, ... |
ORPHA:2556 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Cogan Syndrome |
|
Episcleritis, Aortic regurgitation, Keratitis, Vasculitis, Uveitis, Large vessel vasculitis, Scle... |
ORPHA:1467 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Reduced C-peptide level, Pancreatic aplasia, Exocrine pancreatic insuffici... |
OMIM:260370 |
Al-Gazali Syndrome |
|
Recurrent pneumonia, Corneal opacity, Sclerocornea |
OMIM:609465 |
Acitretin/Etretinate Embryopathy |
|
Epicanthus, Antecubital pterygium, Hypoplasia of the thymus, Third degree atrioventricular block,... |
ORPHA:40366 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Splenomegaly, Prominent eyelashes, Lymphadenopathy, Long palpebral ... |
OMIM:616651 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Cataract, Corneal opacity, Pneumonia, Highly arched eyebrow, Hepatosplenome... |
ORPHA:309282 |
Neu-Laxova Syndrome |
|
Cataract, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash m... |
ORPHA:2671 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Epicanthus, Telecanthus, Multiple pterygia, Abnormal eyelid morphology, Cryptorchidism, Antecubit... |
ORPHA:2990 |
Septo-Optic Dysplasia Spectrum |
|
Cryptorchidism, Dry skin, Anterior pituitary hypoplasia, Hypohidrosis |
ORPHA:3157 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Pyoderma gangrenosum, Sterile arthritis, Hepatosplenomegaly, Arthritis, Colitis, Cystic acne |
OMIM:604416 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cardiomyopathy, Megalocornea, Cataract, Abnormality iris morphology |
ORPHA:370959 |
Transketolase Deficiency |
|
Cataract, Conjunctivitis, Uveitis, Seborrheic dermatitis |
ORPHA:488618 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hypopituitarism, Hypersplenism, High-output congestive heart failure, Jaundic... |
ORPHA:231214 |
Rhabdoid Tumor |
|
Hematuria, Hypertension, Internal hemorrhage, Lymphadenopathy |
ORPHA:69077 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Parkes Weber Syndrome |
|
Prominent superficial blood vessels, Subarachnoid hemorrhage, High-output congestive heart failur... |
ORPHA:90307 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Hypertrophic cardiomyopathy, Conjunctival hyperemia, Highly arched eyebrow |
OMIM:619121 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Premature graying of hair, Alopecia, Prematurely aged appearance, Lack of sk... |
ORPHA:79474 |
Leishmaniasis |
|
Splenomegaly, Skin ulcer, Lymphadenopathy, Rhinitis, Pallor |
ORPHA:507 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Hypohidrosis, Premature grayi... |
ORPHA:163746 |
Axial Mesodermal Dysplasia Spectrum |
|
Limbal dermoid, Abnormality of the spleen |
ORPHA:1834 |
Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:133780 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure, Sparse hair |
OMIM:619869 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Small nail, Short palpebral fissure |
OMIM:608670 |
Caroli Disease |
|
Cholangitis, Portal hypertension, Conjunctival icterus, Jaundice, Splenomegaly, Cholelithiasis |
ORPHA:53035 |
Hallermann-Streiff Syndrome |
|
Alopecia, Telecanthus, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Congestive ... |
ORPHA:2108 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Renal insufficiency, Proteinuria, Congestive heart failure, Nocturia... |
ORPHA:85450 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Osteomyelitis, Intracranial hemorrhage, Sp... |
ORPHA:565 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, White eyelashes, White eyebrow, Cryptorchidism, Hypohidrosis, White forelock, Hetero... |
OMIM:609136 |
Pseudo-Torch Syndrome 1 |
|
Cataract, Splenomegaly, Jaundice, Opacification of the corneal stroma, Petechiae |
OMIM:251290 |
Kawasaki Disease |
|
Abnormality of nail color, Pericarditis, Skin rash, Myocarditis, Congestive heart failure, Vascul... |
ORPHA:2331 |
Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Chorioretinal coloboma, Peters anomaly |
OMIM:120200 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cryptorchidism, Pterygium, Hirsutism, Developmental cataract |
ORPHA:1865 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Nail dystrophy, Epiphora |
OMIM:616353 |
Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Decreased circulating cortisol level, Myocardial infarction, Sparse axil... |
ORPHA:95409 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Iris coloboma, Sclerocornea |
ORPHA:77298 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Hyperparathyroidism, Cataract, Corneal opacity, Chorioretinal dysplasia, Crypt... |
ORPHA:534 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Nephritis, Nail dystrophy, Lacrimal duct stenosis |
OMIM:609057 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Congestive heart failure, Microspherophaki... |
OMIM:608328 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Carpenter Syndrome |
|
Cryptorchidism, Abnormal cornea morphology, Polysplenia |
ORPHA:65759 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal bleeding, Abnormal circulating albumin conce... |
ORPHA:86839 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Conjunctival whitish salt-like deposits |
OMIM:211900 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Corneal opacity |
OMIM:272200 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Entropion, Keratitis, Bilateral cryptorchidism, Telangiectasia, Conjunctivitis, Cu... |
OMIM:278800 |
Cockayne Syndrome Type 1 |
|
Cataract, Tremor, Cryptorchidism, Hypohidrosis, Conjunctivitis, Decreased lacrimation |
ORPHA:90321 |
Ollier Disease |
|
Lymphangioma, Skin ulcer |
ORPHA:296 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation |
ORPHA:54 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Reduced radioactive iodine uptake, Decreased circulating T4 concentration, Pituitary hypothyroidi... |
ORPHA:90674 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Tricuspid regurgitation, Ectopia lentis, Heart murmur, Cutis laxa, Mitral regurgita... |
ORPHA:284979 |
Hamamy Syndrome |
|
Hypoparathyroidism, Telecanthus, Sparse eyelashes, Prolonged QRS complex, Blepharophimosis, Spars... |
OMIM:611174 |
Revesz Syndrome |
|
Leukocoria, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Megalocornea, Ridged fingernail |
OMIM:268130 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity, Hirsutism |
OMIM:259600 |
Addison Disease |
|
Hypoparathyroidism, Orthostatic hypotension, Primary testicular failure, Decreased circulating co... |
ORPHA:85138 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Cataract, Corneal opacity, Abnormal eyelid morphology, Cryptorchidism, Hy... |
ORPHA:636 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyelid morphology, Abnormal eyebrow morphology, Lymphadenopathy |
ORPHA:2221 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal fingernail morphology, Skin rash, Erythema, Broad nail, Skin ulcer, Hepatitis, Cheilitis... |
ORPHA:1334 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy |
OMIM:615513 |
Atelis Syndrome 2 |
|
Epicanthus, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenosis, Dacryocystoce... |
OMIM:620185 |
Bruck Syndrome 1 |
|
Pterygium |
OMIM:259450 |
Biotinidase Deficiency |
|
Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunctivitis |
OMIM:253260 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi, Livedo reticularis |
OMIM:611788 |
Alzahrani-Kuwahara Syndrome |
|
Dry skin, Eczema, Astigmatism, Cataract |
OMIM:619268 |
Noonan Syndrome 1 |
|
Epicanthus, Cryptorchidism, Synovitis, Low posterior hairline, Pulmonic stenosis, Woolly hair, Hy... |
OMIM:163950 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Caroli Syndrome |
|
Cholangitis, Portal hypertension, Hematemesis, Conjunctival icterus, Jaundice, Hypersplenism, Mel... |
ORPHA:480520 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization |
ORPHA:891 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Premature graying of hair, Lacrimal ... |
OMIM:613266 |
Carpenter Syndrome 1 |
|
Telecanthus, Epicanthus, Cryptorchidism, Microcornea, Pulmonic stenosis, Opacification of the cor... |
OMIM:201000 |
Infantile Myofibromatosis |
|
Abnormal hair morphology, Neoplasm of the pancreas, Skin ulcer |
ORPHA:2591 |
Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy, Orthostatic hypotension, Anhidrosis, Hypohidrosis, Ptosis |
OMIM:146500 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis, Lymphadenopathy, Recurre... |
OMIM:150550 |
Autosomal Recessive Omodysplasia |
|
Cryptorchidism, Pterygium |
ORPHA:93329 |
Pgm3-Cdg |
|
Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Recurrent ski... |
ORPHA:443811 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Antecubital pterygium |
OMIM:618469 |
Aplasia Cutis Congenita |
|
Skin ulcer |
ORPHA:1114 |
Bruck Syndrome |
|
Pterygium |
ORPHA:2771 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus, Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped palpebral fissures... |
OMIM:229400 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia, Hyperhidrosis |
ORPHA:2151 |
Silver-Russell Syndrome 3 |
|
Unilateral cryptorchidism, Antecubital pterygium |
OMIM:616489 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism, Subcutaneous hemorrhage, Skin ulcer, Purpura |
ORPHA:743 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Gastrointestinal hemorrhage, Skin rash, Pustule, Orchitis, Angioedema, Erythema, Va... |
ORPHA:761 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
Jacobsen Syndrome |
|
Epicanthus, Telecanthus, Abnormal eyelash morphology, Cryptorchidism, Nasolacrimal duct obstructi... |
OMIM:147791 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Periorbital dermoid cyst, Conjunctivitis, Alacrima, Lacrimal duct stenosis |
OMIM:615560 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Prominent eyelashes, Lymphadenopathy, Hepatosplenomegaly, Long palp... |
ORPHA:353298 |
Trichinellosis |
|
Skin rash, Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjunctivitis, Abno... |
ORPHA:863 |
Bruck Syndrome 2 |
|
Pterygium |
OMIM:609220 |
Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
Idiopathic Aplastic Anemia |
|
Epistaxis, Retinal hemorrhage, Bone marrow hypocellularity, Gingival bleeding, Ecchymosis |
ORPHA:88 |
Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma |
OMIM:253010 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Epicanthus, Cataract, Corneal opacity, Hypothyroidism, Downslanted palpebra... |
ORPHA:1052 |
Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tortuosit... |
OMIM:243605 |
Systemic Sclerosis |
|
Pericarditis, Alopecia, Osteomyelitis, Nail bed telangiectasia, Glomerulonephritis, Recurrent ski... |
ORPHA:90291 |
Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Bilateral cryptorchidism, Fine hair, Hypertension, Coarse hair, Astigm... |
OMIM:242900 |
Phaver Syndrome |
|
Epicanthus, Pterygium, Downslanted palpebral fissures |
ORPHA:2876 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Epicanthus, Cataract, Tricuspid regurgitation, Palpebral edema, Brushfield ... |
OMIM:614866 |
Pleural Mesothelioma |
|
Abnormal cardiovascular system physiology, Lymphadenopathy |
ORPHA:50251 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Epicanthus, Redundant neck skin, Cataract, Brushfield spots, Cryptorchidism, Upslanted palpebral ... |
OMIM:214100 |
Vulvovaginal Gingival Syndrome |
|
Ridged nail, Parakeratosis, Erythema, Epidermal acanthosis |
ORPHA:83453 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... |
ORPHA:64744 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Corneal opacity, Eczema, Anterior pituitary hypoplasia, Cryptorchidism, Ast... |
ORPHA:464306 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
Crouzon Syndrome |
|
Keratitis, Conjunctivitis, Dysgerminoma, Shallow orbits |
OMIM:123500 |
Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Epistaxis, Diffuse alveolar hemorrhage, Lymphadenopathy, Hematuria, Oral cavit... |
ORPHA:520 |
Mucopolysaccharidosis Type 6 |
|
Chronic otitis media, Splenomegaly, Sinusitis, Opacification of the corneal stroma |
ORPHA:583 |
Alg11-Cdg |
|
Dry skin |
ORPHA:280071 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splen... |
OMIM:603909 |
Lathosterolosis |
|
Epicanthus, Cataract, Microcornea, Opacification of the corneal stroma, Downslanted palpebral fis... |
ORPHA:46059 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, Annular pan... |
OMIM:615710 |
Fraser Syndrome 1 |
|
Absent eyebrow, Corneal opacity, Absent eyelashes, Cryptorchidism, Extension of hair growth on te... |
OMIM:219000 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Bilateral ptosis, Nail dystrophy, Decreased testicular size, Epiphora |
OMIM:620040 |
Larsen Syndrome |
|
Cryptorchidism, Corneal opacity, Short nail, Shallow orbits |
OMIM:150250 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating cortisol level, Anisocoria, Adrenocorticotropin receptor defect, Adrenal in... |
OMIM:231550 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonyc... |
ORPHA:79151 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Acantholysis, Absent eyelashes, Impaired myocardial contractility, Absent toenail... |
ORPHA:158687 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617514 |
Fetal Akinesia Deformation Sequence |
|
Cryptorchidism, Pterygium |
ORPHA:994 |
Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Telecanthus, Cryptorchidism, Widow's peak, Low posterior hai... |
OMIM:304110 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... |
OMIM:307200 |
Congenital Disorder Of Deglycosylation 1 |
|
Anhidrosis, Corneal opacity, Hyperhidrosis, Corneal ulceration, Ptosis |
OMIM:615273 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, High-output congestive heart failure, Jaundice, Splenomegaly, Hypothyroidism,... |
ORPHA:231222 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Corneal arcus |
OMIM:603776 |
Schnitzler Syndrome |
|
Splenomegaly, Vasculitis, Lymphadenopathy |
ORPHA:37748 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Epicanthus, Bilateral ptosis, Cryptorchidism, Neck pterygia, Antecubital pterygium, Popliteal pte... |
OMIM:265000 |
Helix Syndrome |
|
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis, Dry skin |
OMIM:617671 |
Wolf-Hirschhorn Syndrome |
|
Ptosis, Epicanthus, Highly arched eyebrow, Sclerocornea, Cryptorchidism, Low posterior hairline, ... |
ORPHA:280 |
Mosaic Trisomy 8 |
|
Cryptorchidism, Corneal opacity, Decreased testicular size |
ORPHA:96061 |
Localized Scleroderma |
|
Abnormal skin adnexa morphology, Fasciitis, Raynaud phenomenon, Erythema, Vasculitis, Uveitis, Ar... |
ORPHA:90289 |
Multiple Pterygium Syndrome, X-Linked |
|
Epicanthus, Multiple pterygia |
OMIM:312150 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Splenomegaly, Lymphadenopathy, Intracranial hemorrhage, Bone marrow hypo... |
ORPHA:3226 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation o... |
ORPHA:29207 |
Catastrophic Antiphospholipid Syndrome |
|
Cutis marmorata, Angina pectoris, Myocardial infarction, Pulmonary embolism, Transient ischemic a... |
ORPHA:464343 |
Hereditary Spherocytosis |
|
Maculopapular exanthema, Splenomegaly, Jaundice, Gout, Skin ulcer, Pallor, Restrictive cardiomyop... |
ORPHA:822 |
Juvenile Glaucoma |
|
Retinal arterial occlusion, Retinal vein occlusion, Abnormal anterior chamber morphology, Abnorma... |
ORPHA:98977 |
Hypercholesterolemia, Familial, 1 |
|
Xanthelasma, Corneal arcus |
OMIM:143890 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin rash, Eczema, Portal hypertension, Cutis marmorata, Erythema nodosum, Raynaud phenomenon, Sp... |
OMIM:615688 |
Neuroocular Syndrome |
|
Brittle hair, Synophrys, Lens coloboma, Microcornea, Hooded upper eyelid, Iris coloboma, Highly a... |
OMIM:619539 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Retinoblastoma |
|
Vitreous hemorrhage, Hyphema, Pineoblastoma, Subretinal pigment epithelium hemorrhage |
ORPHA:790 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Anhidrosis, Osteomyelitis, Skin ulcer |
OMIM:613640 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Cryptorchidism, Ankyloblepharon, Popliteal pterygium, Abnormality of the nail, Generalized hirsutism |
ORPHA:1300 |
Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia, Atrophic gastritis, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucocutaneous candidi... |
ORPHA:227990 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Epicanthus, Brittle hair, Palpebral edema, Sparse eyebrow, Congestive heart... |
OMIM:252500 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Mitral regurgitation, Downslanted palpebral fissures, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:613101 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis, Panniculitis, Conjuncti... |
OMIM:617591 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Epicanthus, Aplasia of the thymus, Decreased response to growth hormone stimu... |
OMIM:618223 |
Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer |
ORPHA:1117 |
Lig4 Syndrome |
|
Epicanthus, Hypoplasia of penis, Telangiectasia of the skin, Telecanthus, Lymphadenopathy, Upslan... |
ORPHA:99812 |
Livedoid Vasculopathy |
|
Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Cutis marmora... |
ORPHA:542643 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia |
OMIM:616029 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Congestive heart failure, Splenomega... |
ORPHA:33226 |
Hyperostosis Cranialis Interna |
|
Epiphora |
OMIM:144755 |
Isolated Ectopia Lentis |
|
Hypertension, Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia, Atrophic gastritis, Autoimmune hypoparathyroidism, Iridocyclitis, Xerostomia, Hepatitis... |
ORPHA:227982 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
Stuve-Wiedemann Syndrome 1 |
|
Hyperhidrosis, Opacification of the corneal stroma, Sparse hair, Pulmonary arterial hypertension,... |
OMIM:601559 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Congestive heart failure, Xerostomia, Skin ulcer, Arthritis, Pulmonar... |
ORPHA:220393 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Dry skin, Recurrent skin infections, Generalized abnormalit... |
ORPHA:94059 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Episcleritis, Sparse axillary hair, Progeroid facial appearance, Erythema nodosum, Congestive hea... |
OMIM:256040 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria, Alacrima |
ORPHA:289483 |
Fryns Syndrome |
|
Cryptorchidism, Corneal opacity, Hypoplastic fingernail |
ORPHA:2059 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Cryptorchidism, Buphthalmos, Peters anomaly, Megalocornea |
OMIM:236670 |
Chronic Granulomatous Disease |
|
Sinusitis, Eczema, Mediastinal lymphadenopathy, Splenomegaly, Skin ulcer, Otitis media, Cutaneous... |
ORPHA:379 |
Immunodeficiency 27A |
|
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly |
OMIM:209950 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Myocarditis, Nephropathy, Med... |
ORPHA:809 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Prematurely aged appearance, Dry skin, Urticaria, Cutaneous photosensitivity |
ORPHA:220295 |
Nocardiosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Dacryocystitis, Th... |
ORPHA:31204 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Corneal arcus |
OMIM:144010 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Recurrent skin infections, Urinary bladder inflammation, Nail dystrophy, Pterygium, Ectropion |
ORPHA:79403 |
Immunodeficiency 91 And Hyperinflammation |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Hemolytic-uremic syndrome, Hepatos... |
OMIM:619644 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Hypertension, Xanthelasma, Hyper... |
OMIM:232220 |
Multiple Pterygium Syndrome, Lethal Type |
|
Epicanthus, Multiple pterygia |
OMIM:253290 |
Knobloch Syndrome 1 |
|
Attenuation of retinal blood vessels, Epicanthus, Telecanthus, Band keratopathy, Chorioretinal at... |
OMIM:267750 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Alacrima, Episodic hyperhidrosis, Corneal ulceration, Recurrent corneal erosions |
OMIM:223900 |
Nail-Patella Syndrome |
|
Toenail dysplasia, Abnormal iris pigmentation, Primary congenital glaucoma, Antecubital pterygium... |
ORPHA:2614 |
Miller Fisher Syndrome |
|
Anisocoria, Ptosis, Mydriasis |
ORPHA:98919 |
Boutonneuse Fever |
|
Renal insufficiency, Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Petechiae |
ORPHA:83313 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Angiokeratoma ... |
ORPHA:79280 |
Acquired Purpura Fulminans |
|
Shock, Skin rash, Pyoderma gangrenosum, Intracranial hemorrhage, Macular purpura, Acrocyanosis, I... |
ORPHA:49566 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Bronchiectasis, Abnormal cornea morphology, Chronic rhinitis, Chronic otitis... |
OMIM:244400 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Sparse hair, Hyperthyroidism, L... |
ORPHA:3455 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab... |
ORPHA:2968 |
Infantile Systemic Hyalinosis |
|
Telangiectasia of the skin, Skin ulcer, Polycystic ovaries, Urticaria, Aplasia/Hypoplasia of the ... |
ORPHA:2176 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R... |
OMIM:192315 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Rheumatoid arthritis, Skin ve... |
ORPHA:48104 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Hypertension, Hyp... |
OMIM:210710 |
Galloway-Mowat Syndrome 1 |
|
Epicanthus, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Small nail, Pt... |
OMIM:251300 |
Calciphylaxis |
|
Cutis marmorata, Skin ulcer, Secondary hyperparathyroidism |
ORPHA:280062 |
Congenital Fibrosis Of Extraocular Muscles |
|
Cataract, Levator palpebrae superioris atrophy, Anisocoria, Congenital fibrosis of extraocular mu... |
ORPHA:45358 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Telecanthus, Recurrent pneumonia, Developmental cataract, Lymphangioma, Dry skin, Downslanted pal... |
ORPHA:99646 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hip osteoarthritis, Opacification of the corneal stroma |
OMIM:313400 |
Tumoral Calcinosis, Normophosphatemic, Familial |
|
Conjunctivitis |
OMIM:610455 |
Cinca Syndrome |
|
Retrobulbar optic neuritis, Splenomegaly, Uveitis, Lymphadenopathy, Urticaria, Inflammatory abnor... |
ORPHA:1451 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
Pfapa Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum, Dilated cardiomyopathy, Panniculitis, Cystic acne, Small vessel v... |
OMIM:608068 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Telecanthus, Symblepharon, Thick eyebrow |
ORPHA:488434 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Episodic hyperhidrosis, Osteomyelitis, Acral ulceration |
OMIM:613115 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Telecanthus, Astigmatism, Hooded upper eyelid, Alacrima, Ptosis |
OMIM:618548 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... |
ORPHA:90186 |
Nephroblastoma |
|
Hematuria, Hypertension, Lymphadenopathy |
ORPHA:654 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Popliteal pterygium, Downslanted palpebral fissures |
OMIM:119800 |
Vascular Ehlers-Danlos Syndrome |
|
Redundant skin, Osteoarthritis, Abnormal pupil morphology, Periodontitis, Internal hemorrhage, Ke... |
ORPHA:286 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Seborrheic dermatitis, Pancreatic cysts, Hepatosplenomegaly, Ptosis |
OMIM:274000 |
Primary Myelofibrosis |
|
Abnormal bleeding, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Ecchym... |
ORPHA:824 |
Scrub Typhus |
|
Abnormal bleeding, Renal insufficiency, Myocarditis, Splenomegaly, Lymphadenopathy, Hypotension |
ORPHA:83317 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Hereditary Chronic Pancreatitis |
|
Jaundice, Recurrent pancreatitis, Pancreatic calcification, Elevated circulating C-reactive prote... |
ORPHA:676 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Cataract, Decreased response to growth hormone stimulation test, Pseudohyp... |
ORPHA:94089 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
Mosaic Trisomy 1 |
|
Hypoplastic thumbnail, Congenital bilateral ptosis, Opacification of the corneal stroma, Small na... |
ORPHA:1692 |
Caspase 8 Deficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Alacrima |
OMIM:240000 |
Antiphospholipid Syndrome, Familial |
|
Keratitis, Central retinal artery occlusion, Scleritis, Retinal vasculitis, Iritis |
OMIM:107320 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Epicanthus, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Heart murmur, Anisocoria... |
OMIM:618653 |
Immunodeficiency 55 |
|
Dry skin, Recurrent skin infections, Eczema, Lymphadenopathy |
OMIM:617827 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Pterygium |
OMIM:225790 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Multiple pterygia, Antecubital pterygium, Popliteal pterygium, Downslanted palpebral fissures, Pt... |
OMIM:178110 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Epidermal acanthosis, Patchy palmoplantar hyperkeratosis, Erythroderma |
OMIM:133200 |
Lathosterolosis |
|
Epicanthus, Cataract, Bilobate gallbladder, Hepatosplenomegaly, Opacification of the corneal stro... |
OMIM:607330 |
Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Arrhythmia, Skin ulcer, Pulmonary embolism |
ORPHA:624 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Congestive heart failure, Lymphadenitis, Dilated cardiomyopathy, Splenomegaly, Lymphadenopathy, H... |
OMIM:615895 |
Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
Cone-Rod Dystrophy 10 |
|
Epiphora |
OMIM:610283 |
Cockayne Syndrome |
|
Anhidrosis, Dry hair, Cataract, Band keratopathy, Action tremor, Cryptorchidism, Developmental ca... |
ORPHA:191 |
Van Den Ende-Gupta Syndrome |
|
Blepharophimosis, Abnormal eyebrow morphology, Sclerocornea |
OMIM:600920 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Abnormal eyelash morphology, Splenomegaly, Lymphadenopathy, Bone mar... |
ORPHA:381 |
Lassa Fever |
|
Shock, Jaundice, Conjunctivitis |
ORPHA:99824 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:397596 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Intestinal bleeding, Lymphadenopathy |
ORPHA:424019 |
Cushing Disease |
|
Plethora, Sparse scalp hair, Adrenal hyperplasia, Acne, Dorsocervical fat pad, Myocardial infarct... |
ORPHA:96253 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Corneal opacity, Cryptorchidism, Astigmatism, Posterior pituitary hypoplasi... |
ORPHA:464311 |
Pancreatitis, Hereditary |
|
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency |
OMIM:167800 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Congenital hypothyroidism, Bradycardia, Ectopic thyroid, Decreased circulating T4 concentration, ... |
OMIM:218700 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis, Erythema, Epidermal acanthosis |
OMIM:613943 |
Dyggve-Melchior-Clausen Disease |
|
Corneal opacity |
ORPHA:239 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Epicanthus, Tricuspid regurgitation, Telecanthus, Thick hair, Tachycardia, Congestive heart failu... |
ORPHA:505248 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Cataract, Epicanthus, Cutis marmorata, Sclerocornea, Abnormal eyelash m... |
ORPHA:818 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
Carcinoid Syndrome |
|
Epiphora |
ORPHA:100093 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
American Trypanosomiasis |
|
Myocarditis, Congestive heart failure, Splenomegaly, Lymphadenopathy, Cardiomyopathy, Arrhythmia |
ORPHA:3386 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... |
ORPHA:67042 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Corneal opacity, Splenomegaly, Enlarged tonsils, Heart murmur, Hepatosplenomegaly, Arthritis, Hyp... |
ORPHA:217085 |
Congenital Toxoplasmosis |
|
Lymphadenopathy |
ORPHA:858 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Decreased response to growth hormone stimulation test, Polycoria, Microcornea, Hy... |
OMIM:180500 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Allergic rhinitis, Erythroderma, Cuta... |
ORPHA:330064 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Cold Agglutinin Disease |
|
Splenomegaly, Abnormal urinary color, Lymphadenopathy |
ORPHA:56425 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis, Epidermal acanthosis |
ORPHA:199267 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Corneal opacity, Splenomegaly, Enlarged tonsils, Heart murmur, Hepatosplenomegaly, Arthritis, Hyp... |
ORPHA:217093 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Epidermal acanthosis, Abnormal epidermal morphology, Palmoplantar hype... |
ORPHA:79501 |
Meckel Syndrome |
|
Accessory spleen, Cataract, Pancreatic fibrosis, Abnormal chorioretinal morphology, Sclerocornea,... |
ORPHA:564 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash,... |
ORPHA:900 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Lymphadenopathy |
OMIM:611762 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Glomerulonephritis, Lymphadenopathy |
OMIM:619375 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Petechiae, Lymphadenopathy |
ORPHA:79477 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cryptorchidism, He... |
OMIM:130050 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Digeorge Syndrome |
|
Acne, Parathyroid agenesis, Sclerocornea, Seborrheic dermatitis, Blepharophimosis, Splenomegaly, ... |
OMIM:188400 |
Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail |
OMIM:181600 |
Cone-Rod Dystrophy 8 |
|
Epiphora |
OMIM:605549 |
Peters Plus Syndrome |
|
Cataract, Corneal opacity, Cryptorchidism, Congenital hypothyroidism, Microcornea, Upslanted palp... |
ORPHA:709 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Adenoma sebaceum, Skin ulcer |
ORPHA:493 |
Meckel Syndrome 12 |
|
Antecubital pterygium |
OMIM:616258 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Absence of Stensen duct, Hypopla... |
OMIM:149730 |
White Sponge Nevus 2 |
|
Hyperparakeratosis, Epidermal acanthosis |
OMIM:615785 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Telecanthus, Symblepharon |
OMIM:611929 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
Yunis-Varon Syndrome |
|
Sparse scalp hair, Redundant neck skin, Sparse eyelashes, Cataract, Sclerocornea, Sparse eyebrow,... |
ORPHA:3472 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Skin ulcer, Hepatosplenomegaly |
ORPHA:86884 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Pericarditis, Lymphadenopathy |
ORPHA:85414 |
Acrokeratoelastoidosis Of Costa |
|
Epidermal acanthosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratotic papule, Palmar ... |
ORPHA:38 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Dilated cardiomyopathy, Py... |
ORPHA:3243 |
Bloom Syndrome |
|
Sparse eyelashes, Pneumonia, Skin rash, Paronychia, Recurrent tonsillitis, Cheilitis, Uveitis, Te... |
ORPHA:125 |
Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:615122 |
Biotinidase Deficiency |
|
Skin rash, Alopecia, Eczematoid dermatitis, Conjunctivitis |
ORPHA:79241 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent skin infections, Pneumonia, Pyoderma gangrenosum, Rhinitis, Periodontitis, Recurrent ap... |
ORPHA:486 |
Williams Syndrome |
|
Redundant skin, Myocardial infarction, Hypoplastic toenails, Chronic otitis media, Megalocornea, ... |
ORPHA:904 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cataract, Tremor, Athetosis, Dystonia, Alacrima |
OMIM:615356 |
Trisomy 8P |
|
Cryptorchidism, Low posterior hairline, Upslanted palpebral fissure, Astigmatism, Aplasia/Hypopla... |
ORPHA:264450 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Nephrotic syndrome, Hepatosplenom... |
ORPHA:911 |
Cinca Syndrome |
|
Skin rash, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis |
OMIM:607115 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Epidermal acanthosis, Erythroderma |
OMIM:615022 |
Oculotrichoanal Syndrome |
|
Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction, Abnormal hair pattern |
ORPHA:2717 |
Legionnaires Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Lymphadenopathy, Hemat... |
ORPHA:549 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenop... |
ORPHA:160 |
Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Iridocyclitis, Mediastinal lymphadenopathy, Splenomegaly, Enlarged l... |
OMIM:181000 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Lymphadenopathy, Hepatosplenomeg... |
ORPHA:98850 |
Bone Marrow Failure Syndrome 3 |
|
Epicanthus, Pancreatic steatosis, Cryptorchidism, Hyperechogenic pancreas, Downslanted palpebral ... |
OMIM:617052 |
Plasminogen Deficiency, Type I |
|
Nephritis, Conjunctivitis, Periodontitis |
OMIM:217090 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Epicanthus, Pancreatic fibrosis, Upslanted palpebral fissure, Hepatic fibrosis, Pol... |
OMIM:200995 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Ulnar Hemimelia |
|
Osteoarthritis, Antecubital pterygium |
ORPHA:93320 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal epidermal morphology |
ORPHA:398189 |
Charge Syndrome |
|
Epicanthus, Lacrimation abnormality, Highly arched eyebrow, Cryptorchidism, Eyelid coloboma, Ante... |
ORPHA:138 |
Immunodeficiency 54 |
|
Splenomegaly, Lymphadenopathy |
OMIM:609981 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Junctional ectopic tachycardia, Peters anomaly, Histiocytoid cardiomyopat... |
OMIM:309801 |
Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Vasculitis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia |
OMIM:601859 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Vasculitis, Lymphadenopathy, Purpura |
ORPHA:343 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Lymph node... |
OMIM:300755 |
Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas, Short palpebral fissure |
ORPHA:1305 |
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux |
|
Alacrima |
OMIM:608088 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Epicanthus, Increased circulating thyroglobulin level, Portal hypertension, Pancrea... |
OMIM:610199 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Lymphadenopathy |
OMIM:618495 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction, Myocarditis, Mediasti... |
ORPHA:3452 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Right ventricular failure, Mediastinal lymphadenopathy, Lymphadenopa... |
ORPHA:199241 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Cutis marmorata, Leukocoria, Telangiectasia |
OMIM:219250 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Blepharophimosis, Cryptorchidism, Narrow palpebral fissure, Opacificat... |
OMIM:229850 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Telecanthus, Hypospadias, Urinary incontinence, Highly arched eyebr... |
ORPHA:261552 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Mediastinal lymphadenopathy, Splenomegaly, Bronchiectasis, Uveitis, Pulmonary a... |
OMIM:612387 |
Johanson-Blizzard Syndrome |
|
Sparse scalp hair, Absent lacrimal punctum, Portal hypertension, Conjunctival icterus, Cryptorchi... |
OMIM:243800 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Popliteal pterygium |
ORPHA:3329 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly, Nephroti... |
OMIM:618935 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Epicanthus, Osteoarthritis, Keratoconjunctivitis sicca, Arrhythmia, Acrocyanosis, Pt... |
ORPHA:285 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:98848 |
Wilson Disease |
|
Hypoparathyroidism, Splenomegaly, Osteoarthritis, Atypical or prolonged hepatitis, Jaundice, Kays... |
OMIM:277900 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Chorioretinal atrophy, Corneal crystals |
OMIM:210370 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Melena... |
ORPHA:100080 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, J... |
OMIM:208500 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Cutis marmorata, Transient ischemic attack, Subarachnoid hemorrhage, Hypovo... |
ORPHA:91387 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Jaundice, Osteomyelitis leading to amputation due to slow healing fractures, Corneal scarring, Ac... |
OMIM:256810 |
Cowden Syndrome |
|
Cataract, Generalized hyperkeratosis, Enlarged polycystic ovaries, Goiter, Palmoplantar keratoder... |
ORPHA:201 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage |
OMIM:177850 |
Mucopolysaccharidosis Type 2 |
|
Corneal opacity, Splenomegaly, Enlarged tonsils, Cardiomyopathy, Hypertension, Hip osteoarthritis... |
ORPHA:580 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Splenomegaly, Vasculitis, Lymphadenopathy |
OMIM:308240 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Hemato... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Hemato... |
ORPHA:100082 |
Gaucher Disease |
|
Osteomyelitis, Corneal opacity, Splenomegaly, Osteoarthritis, Hepatitis, Pulmonary arterial hyper... |
ORPHA:355 |
Popliteal Pterygium Syndrome |
|
Cryptorchidism, Ankyloblepharon, Popliteal pterygium, Intercrural pterygium, Pyramidal skinfold e... |
OMIM:119500 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Alacrima, Corneal scarring, Hyperhidrosis |
OMIM:614653 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Petechiae, Splenomegaly, Lymphadenopathy, Ecchymosis, Bruising susceptibility, Abnormal renal phy... |
ORPHA:540 |
Mucopolysaccharidosis, Type Iva |
|
Recurrent pneumonia, Opacification of the corneal stroma |
OMIM:253000 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Pearson Syndrome |
|
Hypoparathyroidism, Hepatomegaly, Ptosis, Pancreatic fibrosis, Decreased response to growth hormo... |
ORPHA:699 |
Deeah Syndrome |
|
Epicanthus, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
OMIM:619004 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary bladde... |
ORPHA:556 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Cataract, Decreased response to growth hormone stimulation test, Reduced c... |
ORPHA:79444 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Annular pancreas, Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas |
ORPHA:2470 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Corneal opacity, Cryptorchidism, Eyelid coloboma, Opacification of th... |
OMIM:268300 |
Cole Disease |
|
Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratode... |
OMIM:615522 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Anhidrosis, Sinus tachycardia, ST segment depression, Hypotension, Abnorma... |
ORPHA:466650 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Parakeratosis, Epidermal acanthosis, Erythema, Hyperkeratosis, Small nail, Orthokeratos... |
OMIM:308050 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract |
OMIM:619649 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Epicanthus, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Eczema... |
ORPHA:83617 |
Stüve-Wiedemann Syndrome |
|
Lacrimation abnormality, Hypohidrosis, Hyperhidrosis, Ectopic thyroid, Hypothyroidism |
ORPHA:3206 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteomyelitis, Epidermal acanthosis, Skin rash, Pustule, Splenomegaly, Hyperkeratosis, Stomatitis |
OMIM:612852 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
Feingold Syndrome 1 |
|
Accessory spleen, Epicanthus, Tricuspid stenosis, Asplenia, Upslanted palpebral fissure, Narrow p... |
OMIM:164280 |
Malt Lymphoma |
|
Abnormal nasolacrimal system morphology, Mediastinal lymphadenopathy, Hyperhidrosis, Lymphadenopa... |
ORPHA:52417 |
Neurooculorenal Syndrome |
|
Iris atrophy, Ectopic posterior pituitary, Decreased circulating cortisol level, Highly arched ey... |
OMIM:620305 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas morphology, En... |
ORPHA:449432 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Epicanthus, Sparse eyelashes, Absent eyelashes, Cryptorchidism, Sparse eyebrow, T... |
OMIM:268400 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Plethora, Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Pancr... |
ORPHA:99889 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Lymphadenopathy, Hypertens... |
ORPHA:139411 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Cataract, Decreased response to growth hormone stimulation test, Reduced c... |
ORPHA:79443 |
Listeriosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Jaundice, Congestive h... |
ORPHA:533 |
Bohring-Opitz Syndrome |
|
Upslanted palpebral fissure, Epicanthus, Supernumerary nipple, Hyperechogenic pancreas |
OMIM:605039 |
Classical Ehlers-Danlos Syndrome |
|
Epicanthus, Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Dermatochal... |
ORPHA:287 |
Microphthalmia, Syndromic 3 |
|
Cryptorchidism, Cataract, Anterior pituitary hypoplasia, Sclerocornea |
OMIM:206900 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent otitis media |
OMIM:601495 |
Lyme Disease |
|
Atrioventricular block, Uveitis, Arthritis, Arrhythmia, Infectious encephalitis |
ORPHA:91546 |
Manitoba Oculotrichoanal Syndrome |
|
Eyelid coloboma, Cryptophthalmos, Nasolacrimal duct obstruction, Abnormality of the hairline |
OMIM:248450 |
Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Retinal neovascularization |
ORPHA:411527 |
Pierson Syndrome |
|
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Retinal hemorrhage, Hy... |
OMIM:609049 |
Cutis Marmorata Telangiectatica Congenita |
|
Telangiectasia of the skin, Cutis marmorata, Leukocoria, Hypothyroidism, Subcutaneous hemorrhage,... |
ORPHA:1556 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Opacification of the corneal stroma |
OMIM:231005 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Abnormal lymph node morphology |
ORPHA:54251 |
Immunodeficiency 7 |
|
Splenomegaly, Lymphadenopathy |
OMIM:615387 |
Brucellosis |
|
Knee osteoarthritis, Hyperhidrosis, Infectious encephalitis, Epididymitis, Lymphadenopathy, Pneum... |
ORPHA:1304 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Highly arched eyebrow, Cryptorchidism, Long eyelashes, Short palpebral fissure, Alacrima |
OMIM:619005 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Corneal opacity, Cerebral hemorrhage, Osteoarthritis, Cutis laxa, Hyperhidr... |
ORPHA:666 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
African Trypanosomiasis |
|
Abnormal EKG, Alopecia, Pericarditis, Keratitis, Myocarditis, Jaundice, Congestive heart failure,... |
ORPHA:3385 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Anhidrosis, Osteomyelitis, Osteoarthritis, Acral ulceration, Septic arthritis |
OMIM:608654 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Epidermal acanthosis |
OMIM:618267 |
Coats Disease |
|
Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Yunis-Varon Syndrome |
|
Sparse scalp hair, Epicanthus, Redundant neck skin, Absent nipple, Sparse eyelashes, Cataract, Sc... |
OMIM:216340 |
Mowat-Wilson Syndrome |
|
Cataract, Supernumerary nipple, Cryptorchidism, Microcornea, Ectopia pupillae, Pulmonic stenosis,... |
OMIM:235730 |
Atelosteogenesis Type I |
|
Telecanthus, Abnormal pancreatic duct morphology |
ORPHA:1190 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Osteomyelitis, Cerebral hemorrhage, Hepatosplenomegaly, Chorioretinitis, Panuve... |
OMIM:301081 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Downslanted palpebral fissures, Abnormal circulating apolipoprotein concentration, Subretinal pig... |
ORPHA:357074 |
Niemann-Pick Disease, Type A |
|
Splenomegaly, Lymphadenopathy |
OMIM:257200 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Ptosis, Pneumonia, Mydriasis |
ORPHA:79138 |
H Syndrome |
|
Abnormal eyebrow morphology, Abnormal cardiovascular system physiology, Hepatosplenomegaly, Lymph... |
ORPHA:168569 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Episodic hyperhidrosis, Paronychia, Anhidrosis, Acral ulceration |
OMIM:201300 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Immunodeficiency 10 |
|
Lymphadenopathy |
OMIM:612783 |
Desmoplastic Small Round Cell Tumor |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:83469 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Cardiac arrest, Myocarditis, Lymphadenopathy, Tubulointerstitial nephritis, ... |
ORPHA:139402 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Conjunctival icterus, Jaundice, Hypertension, Budd-Chi... |
ORPHA:447 |
Kilquist Syndrome |
|
Xerostomia, Alacrima |
OMIM:619080 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia |
OMIM:211890 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis |
OMIM:148600 |
Limb Body Wall Complex |
|
Lens subluxation, Corneal opacity, Iris coloboma |
ORPHA:2369 |
Omodysplasia 1 |
|
Epicanthus, Cryptorchidism, Popliteal pterygium, Narrow palpebral fissure, Blepharophimosis, Axil... |
OMIM:258315 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Raynaud phenomenon, Lymphadenopathy, Hematuria, Nep... |
ORPHA:93552 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Recurrent skin infections, Pneumonia, Paronychia, Dilated cardiomyopathy, Fragile skin,... |
ORPHA:79404 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Downslanted palpebral fissures, El... |
OMIM:610377 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Calcium nephrolithiasis, Mediastinal lymphadenopathy, Chronic noninfectio... |
ORPHA:97289 |
Stickler Syndrome |
|
Epicanthus, Cataract, Telecanthus, Ectopia lentis, Osteoarthritis, Uveitis, Astigmatism, Chronic ... |
ORPHA:828 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis |
OMIM:610227 |
Felty Syndrome |
|
Splenomegaly, Pericarditis, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:47612 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy, Oligosacchariduria |
ORPHA:2483 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Prolonged prothrombin time, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617941 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Lymphadenopathy, Palpitations,... |
ORPHA:100078 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Splenomegaly, Cervical lymphadenopathy, Hepatosplenomegaly, Lymphadenopathy, Pulmonic stenosis, F... |
OMIM:602782 |
Branchiooculofacial Syndrome |
|
Ptosis, Telecanthus, Cataract, Supernumerary nipple, Cryptorchidism, Nasolacrimal duct obstructio... |
OMIM:113620 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Aortic valve stenosis, Pulmonary arterial hypertension, Annular pan... |
ORPHA:210122 |
Aregenerative Anemia |
|
Abnormal bleeding, Bruising susceptibility, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Cyclic Neutropenia |
|
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:2686 |
Charcot-Marie-Tooth Disease Type 1E |
|
Anisocoria, Abnormal pupil morphology |
ORPHA:90658 |
Jacobsen Syndrome |
|
Epicanthus, Ectropion, Cryptorchidism, Eyelid coloboma, Aortic valve stenosis, Annular pancreas, ... |
ORPHA:2308 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy |
OMIM:618048 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Retinal hamartoma, Abnormality of the lympha... |
ORPHA:538 |
Immunodeficiency 97 With Autoinflammation |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619802 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals |
OMIM:219900 |
Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Splenomegaly, Su... |
ORPHA:90324 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per... |
OMIM:263200 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Recurrent otitis media, Antecubital pterygium |
ORPHA:2502 |
Retinoblastoma |
|
Vitreous hemorrhage, Pinealoma |
OMIM:180200 |
Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Poor wound healing, Chronic mucocutaneous candidiasis, Skin ulcer, Periodontitis |
OMIM:116920 |
Generalized Pustular Psoriasis |
|
Pustule, Congestive heart failure, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythr... |
ORPHA:247353 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection |
ORPHA:98813 |
Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Hemate... |
ORPHA:100075 |
Townes-Brocks Syndrome |
|
Cataract, Blepharophimosis, Cryptorchidism, Chorioretinal coloboma, Limbal dermoid, Hypothyroidis... |
ORPHA:857 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... |
OMIM:602450 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Chronic kidney disease, Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Rift Valley Fever |
|
Abnormal bleeding, Hematemesis, Jaundice, Retinal hemorrhage, Hepatitis, Melena, Gingival bleeding |
ORPHA:319251 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Palpebral edema, Myocarditis, Cervical lymphadenopathy, Vasculitis, ... |
ORPHA:50918 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615735 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Portal hypertension, Absence of lymph node germinal center, Hepatosplenomegaly, Urinary retention... |
ORPHA:79124 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Palpit... |
ORPHA:97287 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy, Right ventricular failure, Heart murmur, Palpitations, Fac... |
ORPHA:100085 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, Leukocoria, Aplasia/Hypoplasia of the nails |
ORPHA:2714 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Epicanthus, Cryptorchidism, Upslanted palpebral fissure, Blepharophimosis, Annular pancreas, Down... |
OMIM:616975 |
Microphthalmia, Syndromic 6 |
|
Sclerocornea, Cryptorchidism, Orbital cyst, Microcornea, Anterior hypopituitarism, Hypothyroidism |
OMIM:607932 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Lymphadenitis, Abnormality of the lymphatic system, Lymphadenopa... |
ORPHA:2035 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Buphthalmos, Pallor, Opacification of the corneal stroma, Megalocornea |
OMIM:253280 |
Familial Drusen |
|
Macular hemorrhage |
ORPHA:75376 |
Kyphomelic Dysplasia |
|
Pterygium |
OMIM:211350 |
Primary Sclerosing Cholangitis |
|
Spider hemangioma, Portal hypertension, Congestive heart failure, Jaundice, Dilated superficial a... |
ORPHA:171 |
Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Epicanthus, Cryptorchidism, Antecubital pterygium, Popliteal pterygium, Aplasia/Hypoplasia of the... |
OMIM:609945 |
Neu-Laxova Syndrome 1 |
|
Ablepharon, Cataract, Absent eyelashes, Cryptorchidism, Yellow subcutaneous tissue covered by thi... |
OMIM:256520 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Mediastinal lymphadenopathy, Upslanted palpebral fissure, Pulmonary arte... |
OMIM:620233 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Splenomegaly, Lymphadenopathy |
OMIM:616100 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619183 |
Q Fever |
|
Pericarditis, Myocarditis, Splenomegaly, Vasculitis, Hepatosplenomegaly, Abnormal left ventricula... |
ORPHA:781 |
Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, Glomerulonephritis, Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly... |
ORPHA:3261 |
Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:613011 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Pancreatic fibrosis, Macronodular cirrhosis, Hyperbilirubinemia, Exocrine pancreati... |
OMIM:557000 |
Acute Interstitial Pneumonia |
|
Hypertension, Lymphadenopathy |
ORPHA:79126 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Alopecia, Epicanthus, Abnormal fingernail morphology, Myocardial infarctio... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Alopecia, Epicanthus, Abnormal fingernail morphology, Myocardial infarctio... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Alopecia, Epicanthus, Abnormal fingernail morphology, Myocardial infarctio... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Alopecia, Epicanthus, Abnormal fingernail morphology, Myocardial infarctio... |
ORPHA:881 |
Familial Mediterranean Fever |
|
Pericarditis, Proteinuria, Myocardial infarction, Splenomegaly, Vasculitis, Lymphadenopathy, Neph... |
ORPHA:342 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... |
OMIM:267010 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, He... |
ORPHA:85408 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... |
ORPHA:293987 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Reduced C-peptide level, Absent gallbladder, Hypoamylasemia, Pancreatic aplasia |
ORPHA:556955 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cryptorchidism, Splenomegaly,... |
ORPHA:116 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Sterile pyuria, Tubulointerstitial nephritis, Abnormal ureter morphology, Nephroti... |
ORPHA:449395 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas physiology, Abnorm... |
ORPHA:93111 |
Infantile Nephropathic Cystinosis |
|
Abnormal cornea morphology, Abnormality of thyroid physiology, Corneal crystals |
ORPHA:411629 |
Fanconi Anemia, Complementation Group D2 |
|
Blepharophimosis, Cryptorchidism, Annular pancreas, Bruising susceptibility |
OMIM:227646 |
Lethal Congenital Contracture Syndrome 9 |
|
Antecubital pterygium, Axillary pterygium |
OMIM:616503 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Lymphadenopathy |
OMIM:304790 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas, Bruising susceptibility |
OMIM:618162 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:1332 |
Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Pancreatic cysts, Elevated circulating creatinine concentration, Hypert... |
ORPHA:730 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Cholangiocarcinoma, Gastrointestinal hemorrhage, Cholangitis, Portal hypertension, ... |
ORPHA:731 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Lymphadenopathy |
ORPHA:169090 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Renal angiomyolipoma, Elevated ... |
OMIM:260920 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Splenomegaly, Prolonged prothrombin time, Lymphadenopathy, Hepatosplenomegaly |
OMIM:603553 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf... |
OMIM:616263 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Renal insufficiency, Myocardial ... |
ORPHA:117 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
OMIM:301078 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Prolonged prothrombin time, Lymphadenopathy |
OMIM:267700 |
Chediak-Higashi Syndrome |
|
Splenomegaly, Spontaneous, recurrent epistaxis, Bruising susceptibility, Lymphadenopathy |
OMIM:214500 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Hypertension, Pheochromocytoma, Hepatic hemangioma, R... |
OMIM:193300 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center |
OMIM:308230 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy |
OMIM:603554 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100026 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Lymphadenopathy, Ab... |
ORPHA:79078 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Foot osteomyelitis, Acral ulceration |
OMIM:256840 |
Hennekam Syndrome |
|
Epicanthus, Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney, Lymphaden... |
ORPHA:2136 |
Macrophage Activation Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:158061 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... |
ORPHA:892 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Upslanted palpebral fissure, Annular pancreas |
ORPHA:488642 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Bradycardia, Synophrys |
ORPHA:97297 |
Distal Deletion 12Q |
|
Telecanthus, Unilateral cryptorchidism, Pituitary adenoma, Biliary atresia, Annular pancreas, Dow... |
ORPHA:96149 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Splenomegaly, Lymphadenopathy |
ORPHA:436159 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Splenomegaly, Lymphadenopathy, Syncope, Hypotension |
ORPHA:98849 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Vasculitis, Lymphadenopathy |
OMIM:617099 |
Cherubism |
|
Lower eyelid retraction, Submandibular lymph node enlargement |
OMIM:118400 |
Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Arter... |
ORPHA:93126 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Epicanthus, Splenomegaly, Lymphadenopathy, Polysplenia |
OMIM:619418 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Raynaud phenomenon, Tubulointerstitial fibrosis, Lymphadenopathy, Purpura |
OMIM:607944 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
Common Variable Immunodeficiency |
|
Splenomegaly, Vasculitis, Lymphadenopathy, Purpura |
ORPHA:1572 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis |
OMIM:615503 |
Chédiak-Higashi Syndrome |
|
Abnormal bleeding, Epistaxis, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Gingival bleedin... |
ORPHA:167 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Absent anterior chamber of the eye |
OMIM:259770 |
1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Epicanthus, Abnormality of the spleen, Cryptorchidism, Dilated cardi... |
ORPHA:1606 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Hypertension, Chronic pancreatitis |
OMIM:613159 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Tricuspid regurgitation, Hepatic fibrosis |
OMIM:263520 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Lymphadenopathy |
ORPHA:2905 |
Chikungunya |
|
Abnormal bleeding, Epistaxis, Raynaud phenomenon, Cervical lymphadenopathy, Lymphadenopathy, Ging... |
ORPHA:324625 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Opacification of the corneal stroma |
OMIM:615287 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Generalized hypertrichosis, Central hypothyroidism, Shallow orbits, Annular pancrea... |
ORPHA:798 |
Pancreatoblastoma |
|
Abnormal lymph node morphology |
ORPHA:677 |
Multiple Myeloma |
|
Splenomegaly, Lymphadenopathy, Nephrotic syndrome, Nephropathy, Acute kidney injury |
ORPHA:29073 |
Adenocarcinoma Of The Anal Canal |
|
Intestinal bleeding, Lymphadenopathy |
ORPHA:424016 |
Coccidioidomycosis |
|
Pericarditis, Renal insufficiency, Abnormality of the spleen, Mediastinal lymphadenopathy, Vascul... |
ORPHA:228123 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233690 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Splenomegaly, Lymphadenopathy, Tubulointerstitial nephritis, Nephrotic syndrome, Membranous nephr... |
ORPHA:37042 |
Selective Igm Deficiency |
|
Raynaud phenomenon, Lymphadenitis, Lymphadenopathy |
ORPHA:331235 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Lymphadenopathy, Hematuria, Hypertension |
ORPHA:536 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Right-to-left shunt, Pulmonary arterial hypertension, Annular pancreas, Pulmonary insuf... |
OMIM:265380 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Lymphadenopathy |
ORPHA:83471 |
Craniofacial Microsomia 1 |
|
Limbal dermoid, Blepharophimosis, Upper eyelid coloboma, Ptosis |
OMIM:164210 |
Granulomatous Disease, Chronic, X-Linked |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:306400 |
Generalized Arterial Calcification Of Infancy |
|
Transient ischemic attack, Left ventricular systolic dysfunction, Retinal hemorrhage, Hepatic cal... |
ORPHA:51608 |
Familial Pancreatic Carcinoma |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:1333 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Pulmonary arterial hypertension, Bruising susceptibility, Lymphadenopathy |
ORPHA:667 |
Split Cord Malformation |
|
Tufted hairs, Penetrating foot ulcers, Hypertrichosis |
ORPHA:573278 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Erythema nodosum, Raynaud phenomenon, Jaundice, Splenomegaly, Lip te... |
OMIM:613471 |
Immunodeficiency 31C |
|
Splenomegaly, Lymphadenopathy |
OMIM:614162 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
Immunodeficiency 82 With Systemic Inflammation |
|
Splenomegaly, Follicular hyperplasia, Vasculitis in the skin, Lymphadenopathy |
OMIM:619381 |