Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Familial Adenomatous Polyposis 3 |
|
Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Duodenal adenocarcinoma, Basal cell... |
OMIM:616415 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
Muir-Torre Syndrome |
|
Breast carcinoma, Colonic diverticula, Adenoma sebaceum, Duodenal adenocarcinoma, Malignant genit... |
OMIM:158320 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Adenocarcinoma of the colon, Large intestinal polyposis, Desmoid tumors, Re... |
ORPHA:247798 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Breast carcinoma, Seborrheic keratosis, Duodenal adenocarcinoma, Squam... |
ORPHA:454840 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Breast carcinoma, Colorectal polyposis, Adenocarcinoma of the colon, Neoplasm of the rectum, Brai... |
ORPHA:447877 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Microcoria, Iris coloboma, Anophthalmia |
OMIM:616428 |
Hereditary Mixed Polyposis Syndrome |
|
Juvenile colonic polyposis, Colorectal polyposis, Neoplasm of the gastrointestinal tract, Thyroid... |
ORPHA:157794 |
Desmoid Disease, Hereditary |
|
Breast carcinoma, Colon cancer, Colorectal polyposis, Desmoid tumors |
OMIM:135290 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Microdontia, Bifid uvula, Taurodontia, Supernumerary nipple, Decreased number of s... |
OMIM:129400 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Tympanosclerosis, Diarrhea, Chronic active hepatitis, Hypoparathyroidism, Alopecia, Pre... |
OMIM:240300 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As... |
ORPHA:247806 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Trichothiodystrophy |
|
Tiger tail banding, Hypoplasia of mandible relative to maxilla, Epicanthus, Keratoconjunctivitis ... |
ORPHA:33364 |
Mismatch Repair Cancer Syndrome 1 |
|
Lymphoma, Medulloblastoma, Astrocytoma, Adenocarcinoma of the small intestine, Adenocarcinoma of ... |
OMIM:276300 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Iris coloboma, Anophthalmia |
OMIM:611638 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Tularemia |
|
Brain abscess, Inflammatory abnormality of the eye, Meningitis, Cervical lymphadenopathy, Thrombo... |
ORPHA:3392 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Agel Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Blepharochalasis, Bilateral ptosis, Tongue ... |
ORPHA:85448 |
Mixed Connective Tissue Disease |
|
Keratoconjunctivitis sicca, Pericarditis, Myositis, Gastritis, Meningitis, Hepatomegaly, Prolonge... |
ORPHA:809 |
Trichothiodystrophy 1, Photosensitive |
|
Tiger tail banding, Keratoconjunctivitis sicca, Intestinal obstruction, Erythroderma, Chronic dia... |
OMIM:601675 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Fibroma, Neoplasm of the stomach, Astrocytoma, Papilloma, Adenocarcinoma of t... |
ORPHA:220460 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Meningitis, Abnormality of the tonsils, Chronic diarrhea, ... |
ORPHA:47 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Kid Syndrome |
|
Gingivitis, Prelingual sensorineural hearing impairment, Corneal erosion, Acne inversa, Keratocon... |
ORPHA:477 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Vomiting, Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Chronic... |
OMIM:619079 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Diarrhea, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent ot... |
OMIM:240500 |
Gist-Plus Syndrome |
|
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis |
OMIM:175510 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Decreased fertility, Small nail, Trichorrhexis nodosa, Macrotia, Epicanthus, Brittl... |
OMIM:234050 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Hypohidrosis, Blindness, Keratoconjunctivitis sicca, Protruding ear, Fine hair, Microcornea, Abno... |
ORPHA:1806 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Microdontia, Elbow flexion contracture, Keratoconjunctivitis sicca, Nail dysplasia, Absent pubic ... |
OMIM:148210 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse body hair, Sparse eyebrow, Alopecia, Hypoplastic toenails, Microdontia, Abnormality of den... |
ORPHA:2722 |
Hypotrichosis 5 |
|
Alopecia, Hearing abnormality, Thin eyebrow, Abnormality of the nail, Abnormal sweat gland morpho... |
OMIM:612841 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, B lymphocytopenia, Diarrhea, Neu... |
OMIM:607594 |
Familial Adenomatous Polyposis 1 |
|
Fibroma, Multiple lipomas, Medulloblastoma, Astrocytoma, Duodenal polyposis, Odontoma, Adrenocort... |
OMIM:175100 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma, Colorectal polyposis |
OMIM:615083 |
Behçet Disease |
|
Keratoconjunctivitis sicca, Pericarditis, Myositis, Retrobulbar optic neuritis, Meningitis, Splen... |
ORPHA:117 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Breast carcinoma, Stomach cancer, Adenocarcinoma of the small intestin... |
ORPHA:79501 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Microphthalmia, Cataract |
OMIM:610092 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Kerion Celsi |
|
Alopecia, Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Lymphadeno... |
ORPHA:499 |
Acrofacial Dysostosis, Weyers Type |
|
Conical tooth, Facial cleft, Advanced eruption of teeth, Hypodontia, Abnormal oral frenulum morph... |
ORPHA:952 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Facial cleft, Micrognathia, Bifid nose, Narrow mouth, Broad nasal tip, Microceph... |
OMIM:239800 |
Cataract 11, Multiple Types |
|
Cataract, Microphthalmia, Developmental cataract |
OMIM:610623 |
Mucoepithelial Dysplasia, Hereditary |
|
Chronic monilial nail infection, Erythematous oral mucosa, Nail dysplasia, Eosinophilia, Chronic ... |
OMIM:158310 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea, Chronic diarrhea |
OMIM:613291 |
Poikiloderma With Neutropenia |
|
Micrognathia, Recurrent sinusitis, Splenomegaly, Skin rash, Recurrent bronchopulmonary infections... |
OMIM:604173 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Iris coloboma, Microphthalmia, Progressive cataract |
OMIM:604219 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Microcornea |
OMIM:251505 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Diarrhea 9 |
|
Diarrhea, Villous atrophy |
OMIM:618168 |
Tenorio Syndrome |
|
Gastroesophageal reflux, Recurrent aphthous stomatitis, Mandibular prognathia, Cerebral palsy, Wi... |
OMIM:616260 |
Hypotrichosis 7 |
|
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Brittle hair, Sparse axillary hair, Abnormal... |
OMIM:604379 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Recurrent sinusitis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... |
OMIM:615559 |
Cryoglobulinemic Vasculitis |
|
Abnormality of the liver, Petechiae, Arthritis, Abdominal pain, Keratoconjunctivitis sicca, Purpu... |
ORPHA:91138 |
Rubinstein-Taybi Syndrome 2 |
|
Epicanthus, Micrognathia, Broad hallux, Hirsutism, Posterior helix pit, Feeding difficulties, Thi... |
OMIM:613684 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Chorea, Ataxia, Hypoesthesia, Dysmetria, Thalamic calcification, Basal ganglia calcification, Men... |
OMIM:618317 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Anemia, Skin rash, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thr... |
OMIM:603552 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse eyebrow, Alopecia, Dystrophic toenail, Sparse scalp hair, Brittle hair, Onycholysis, Abnor... |
OMIM:614929 |
Cockayne Syndrome |
|
Somatic sensory dysfunction, Progressive visual loss, Abnormal number of teeth, Feeding difficult... |
ORPHA:191 |
Clouston Syndrome |
|
Conjunctivitis, Sparse eyebrow, Alopecia, Small nail, Brittle hair, Palmoplantar hyperkeratosis, ... |
OMIM:129500 |
Familial Adenomatous Polyposis |
|
Fibroma, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal tract, Ependymom... |
ORPHA:733 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Partial agenesis of the cor... |
OMIM:604213 |
Supernumerary Nostril |
|
Abnormality of ethmoid sinus, Supernumerary naris, Facial cleft, Choanal atresia |
ORPHA:141096 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology, Abnormal caudate nucleus morphology, Cognitive impairment, Ab... |
ORPHA:397725 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Limb ataxia, Thalamic calcification, Basal ganglia calcification, Mental deterioration, Cerebella... |
OMIM:618824 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Generalized lymphadenopathy, Recurrent sinusitis, Clubbing of fingers, Colitis, C... |
OMIM:614700 |
Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Paresthesia, Hemolytic anemia, Scleritis, Keratoconjunctivit... |
ORPHA:95159 |
Hypohidrotic Ectodermal Dysplasia |
|
Hypohidrosis, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized hypopigmentati... |
ORPHA:238468 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Epicanthus, Feeding difficulties in infancy, Taurodontia, Elbow disloc... |
ORPHA:10 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Keratoconjunctivitis, Nausea and vomiting, Coma, Eczema, Ataxia, Perioral eczema, Anore... |
ORPHA:79242 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Candidiasis, Familial, 1 |
|
Alopecia, Chronic mucocutaneous candidiasis, Cutaneous anergy, Premature loss of teeth, Recurrent... |
OMIM:114580 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Chronic diarrhea, Malabsorption, Nausea, Abnormal small intestinal mucosa morphology, D... |
ORPHA:103907 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conical tooth, 2-3 toe syndactyly, Nasogastric tube feeding in infancy, Conductive hearing impair... |
OMIM:106260 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hallux valgus, Micrognathia, Keratoconjunctivitis sicca, Elbow dislocation, Alopecia, Radioulnar ... |
ORPHA:536532 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Crypt hyperplasia, Intractable diarrhea, Villous atrophy |
OMIM:613217 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Conjunctivitis, Enamel hypoplasia, Sparse eyebrow, Alopecia, Folliculitis, Scarring alopecia of s... |
OMIM:612843 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Wide nasal bridge |
OMIM:615524 |
Pierre Robin Syndrome |
|
Micrognathia, Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:261800 |
Cockayne Syndrome Type 3 |
|
Conductive hearing impairment, Premature graying of hair, Keratoconjunctivitis sicca, Elevated he... |
ORPHA:90324 |
Oculomaxillofacial Dysostosis |
|
Underdeveloped nasal alae, Wide nasal bridge, Facial cleft, Micrognathia, Median cleft lip, Cleft... |
ORPHA:1794 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Hypoplastic sweat glands, Hypohidrosis, Sparse lateral eyebrow, Trichorrhexis nodosa, Natal tooth... |
OMIM:617337 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascul... |
OMIM:617388 |
Dyskeratosis Congenita |
|
Premature graying of hair, Abnormal testis morphology, Neoplasm of the pancreas, Taurodontia, Bon... |
ORPHA:1775 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Gingivitis, Sparse scalp hair, Periodontitis, Alopecia universalis, Abnormal ey... |
ORPHA:1008 |
Cranioectodermal Dysplasia |
|
High hypermetropia, Finger syndactyly, Epicanthus, Microdontia, Hypodontia, Taurodontia, Clinodac... |
ORPHA:1515 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Sensorineural hearing impairment, Long philtrum, Decreased response to gro... |
OMIM:616007 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Hypotrichosis 3 |
|
Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland morphology, Abnormal eyelash mor... |
OMIM:613981 |
Autosomal Agammaglobulinemia |
|
Conjunctivitis, Osteomyelitis, High palate, Bronchiectasis, Epicanthus, Hepatitis, Skin rash, Art... |
ORPHA:33110 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Alopecia, Sparse scalp hair, Absent eyelashes, Hydrocele testis, Abnormality of the nail, Abnorma... |
OMIM:607823 |
Autoimmune Polyendocrinopathy Type 4 |
|
Biliary cirrhosis, Keratoconjunctivitis sicca, Celiac disease, Aplasia/Hypoplasia of the spleen, ... |
ORPHA:227990 |
Autoimmune Polyendocrinopathy Type 3 |
|
Biliary cirrhosis, Keratoconjunctivitis sicca, Celiac disease, Aplasia/Hypoplasia of the spleen, ... |
ORPHA:227982 |
Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal bone ossification, Increased bone mineral density, Sclerosis of foot b... |
ORPHA:166119 |
Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis |
ORPHA:3416 |
Abetalipoproteinemia |
|
Progressive visual loss, Fat malabsorption, Keratoconjunctivitis sicca, Elevated hepatic transami... |
ORPHA:14 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Leukoencephalopathy, Cerebral cortical atrophy, T2 hypointense thalamus, Dementia, Basal ganglia ... |
OMIM:618193 |
Colorectal Cancer |
|
Neoplasm of the stomach, Uterine leiomyosarcoma, Renal cell carcinoma, Transitional cell carcinom... |
OMIM:114500 |
Congenital Erythropoietic Porphyria |
|
Scleritis, Reticulocytosis, Thrombocytopenia, Corneal ulceration, Splenomegaly, Blindness, Seborr... |
ORPHA:79277 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Palmoplantar hyperkeratosis, Decreased number of sweat glands, Subungual hyperkeratosis, Dystroph... |
ORPHA:69087 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Alopecia, Hypoplastic toenails, Mandibular prognathia, Sparse scalp hair, Toenail dysplasia, Anem... |
ORPHA:2325 |
Tumor Predisposition Syndrome 1 |
|
Renal cell carcinoma, Malignant mesothelioma, Lung adenocarcinoma, Meningioma, Uveal melanoma, Cu... |
OMIM:614327 |
Lacrimoauriculodentodigital Syndrome |
|
Absent thumb, Conductive hearing impairment, Toe syndactyly, Micrognathia, Microdontia, Bifid uvu... |
ORPHA:2363 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Epicanthus, Camptodactyly, Babinski sign, Hepatomegaly, Hearing impair... |
OMIM:616354 |
Hypotrichosis 13 |
|
Abnormality of dental morphology, Woolly hair, Abnormal sweat gland morphology, Sparse eyelashes,... |
OMIM:615896 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Non-midline cleft lip, Conductive hearing impairment, Epicanthus, Toe sy... |
ORPHA:2710 |
Cronkhite-Canada Syndrome |
|
Tapered finger, Diarrhea, Hepatomegaly, Furrowed tongue, Splenomegaly, Sparse body hair, Alopecia... |
ORPHA:2930 |
Ifap Syndrome 2 |
|
Angular cheilitis, Keratoconjunctivitis sicca, Cataract, Keratitis, Photophobia, Sparse hair, Nai... |
OMIM:619016 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Conjunctivitis, Downslanted palpebral fissures, Long philtrum, Wide mouth, Microtia, Micrognathia... |
OMIM:602562 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Colon... |
OMIM:174900 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Conjunctivitis, Arthritis, Lymphadenopathy |
OMIM:617772 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Corneal opacity, Microcornea |
ORPHA:2432 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Incisor macrodontia, Long philtrum, Epicanthus, Long eyelashes, Single ... |
OMIM:615502 |
Parc Syndrome |
|
Alopecia, Absent eyelashes, Microretrognathia, Absent eyebrow, Cleft palate |
OMIM:600331 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma, Microphthalmia |
OMIM:610093 |
Microsporidiosis |
|
Brain abscess, Prostatitis, Biliary tract abnormality, Myositis, Decreased proportion of CD4-posi... |
ORPHA:2552 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Protracted diarrhea, Villous atrophy |
OMIM:251850 |
Filippi Syndrome |
|
Serrated incisors, Hypodontia, Microdontia, Abnormality of dental morphology, Short philtrum, Fro... |
OMIM:272440 |
Cockayne Syndrome Type 2 |
|
Conjunctivitis, Enamel hypoplasia, Mandibular prognathia, Macrotia, Delayed eruption of primary t... |
ORPHA:90322 |
Frontofacionasal Dysplasia |
|
Non-midline cleft lip, Depressed nasal ridge, Facial cleft, Short nose, Dimple on nasal tip, Depr... |
ORPHA:1791 |
Chromomycosis |
|
Lymphangiectasis, Abnormality of the upper limb, Abnormal oral cavity morphology, Keratoconjuncti... |
ORPHA:182 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Gait ataxia, Cognitive impairment, Hyperintensity of cerebral white matter on MRI, Motor deterior... |
ORPHA:1947 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Horner syndrome, Tongue atrophy, Delayed eruption of teeth, Blepharophimosis... |
OMIM:141300 |
Isolated Pierre Robin Syndrome |
|
Micrognathia, Glossoptosis, Cleft palate |
ORPHA:718 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Micrognathia, Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:311895 |
Cerebrooculonasal Syndrome |
|
Abnormal nostril morphology, High palate, Long philtrum, Facial cleft, Widely spaced teeth, Micro... |
ORPHA:66625 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Conjunctivitis, Enamel hypoplasia, Alopecia, Anemia, Esophageal stricture, Mitten deformity, Corn... |
OMIM:226600 |
Alpha-Heavy Chain Disease |
|
Alopecia, Anemia, Malabsorption, Premature ovarian insufficiency, Abdominal pain, Lymphadenopathy... |
ORPHA:100025 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... |
OMIM:136300 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Gingivitis, Eczema, Palmoplantar hyperkeratosis, Hearing impairment, Dys... |
ORPHA:2907 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Necr... |
OMIM:619350 |
Hypocomplementemic Urticarial Vasculitis |
|
Conjunctivitis, Sensorineural hearing impairment, Diarrhea, Cerebral palsy, Small vessel vasculit... |
ORPHA:36412 |
Eec Syndrome |
|
Hypoplasia of the thymus, Corneal erosion, Anterior hypopituitarism, Microdontia, Inflammatory ab... |
ORPHA:1896 |
Biotinidase Deficiency |
|
Conjunctivitis, Alopecia, Vomiting, Sensorineural hearing impairment, Diarrhea, Skin rash, Decrea... |
OMIM:253260 |
Acrofacial Dysostosis, Catania Type |
|
Facial cleft, Microretrognathia, Short nose, Abnormal palate morphology, Hypoplasia of the zygoma... |
ORPHA:1786 |
Tubulinopathy-Associated Dysgyria |
|
Abnormality of thalamus morphology, Agyria, Cerebellar vermis hypoplasia, Ataxia, Dysgyria, Abnor... |
ORPHA:467166 |
Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Primary Sjögren Syndrome |
|
Somatic sensory dysfunction, Biliary cirrhosis, Chronic active hepatitis, Keratoconjunctivitis si... |
ORPHA:289390 |
Sandhoff Disease |
|
Blindness, Congestive heart failure, Ataxia, Hearing impairment, Hepatomegaly, Recurrent respirat... |
ORPHA:796 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Dental malocclusion, Sparse eyebrow, Tiger tail banding, Epicanthus, Ataxia, Sparse hair, Brachyd... |
OMIM:619692 |
Renpenning Syndrome |
|
Epicanthus, Iris coloboma, Cleft palate, Alopecia, Round ear, Narrow mouth, Upslanted palpebral f... |
ORPHA:3242 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Tapered finger, Epicanthus, Microdontia, Synophrys, Sparse eyelashes, Feeding difficulties, Thick... |
OMIM:619293 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Oral ulcer, Panhypogammaglobulinemia, BCGitis, B lymphocytopenia, Chronic diarrhea, Generalized l... |
OMIM:602450 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Cleft upper lip, Depressed nasal ridge, Facial cleft, Optic nerve hypoplasia, Cleft palate, High,... |
OMIM:607597 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Camptodactyly of finger, Abnormal nasolacrimal system morphology, High anterior hairline, Abnorma... |
ORPHA:3220 |
Sarcoidosis |
|
Abnormal lymph node morphology, Abnormal conjunctiva morphology, Bronchiectasis, Keratoconjunctiv... |
ORPHA:797 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Vomiting, Diarrhea, Villous atrophy |
OMIM:615863 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Diarrhea, Hemoperitoneum, Tachycardia, Abnormal left ventricular function, Subdural ... |
ORPHA:99827 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Asplenia, Alopecia, Cirrhosis, Keratoconjunctivitis, Hepatitis, Exocrine pancreatic insu... |
OMIM:269200 |
Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip, Tessier number 4 facial cleft |
OMIM:600251 |
Otodental Syndrome |
|
Delayed eruption of teeth, Pulp calcification, Taurodontia, Lens coloboma, Iris coloboma, Gingiva... |
ORPHA:2791 |
Cranioectodermal Dysplasia 4 |
|
Epicanthus, Cutaneous finger syndactyly, Taurodontia, Onychogryposis, Broad distal phalanx of fin... |
OMIM:614378 |
Lymphoid Interstitial Pneumonia |
|
Bronchiectasis, Rheumatoid arthritis, Skin rash, Keratoconjunctivitis sicca, Hypoxemia, Eczema, S... |
ORPHA:79128 |
Immunodeficiency, Common Variable, 3 |
|
Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced... |
OMIM:613493 |
Cach Syndrome |
|
Cerebellar vermis atrophy, Cognitive impairment, Lateral ventricle dilatation, Truncal ataxia, Li... |
ORPHA:135 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Projectile vom... |
OMIM:615237 |
Periodic Fever, Familial, Autosomal Dominant |
|
Conjunctivitis, Oligoarthritis, Vomiting, Chronic diarrhea, Skin rash, Hepatic amyloidosis, Chron... |
OMIM:142680 |
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Patent ductus arteriosus, Sensorineural hearing impairment, Broad eyebrow, Abnormal hair morpholo... |
OMIM:122430 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones |
ORPHA:564003 |
Oculodentodigital Dysplasia |
|
Conductive hearing impairment, Selective tooth agenesis, Epicanthus, Microdontia, Taurodontia, Cl... |
OMIM:164200 |
Zimmermann-Laband Syndrome |
|
Hallux valgus, Micrognathia, Bifid uvula, Hypoplastic fingernail, Large fleshy ears, Hepatomegaly... |
ORPHA:3473 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse eyebrow, Hypoplastic sweat glands, Sparse scalp hair, Natal tooth, Hypodontia, Oligodontia... |
OMIM:601345 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Hirsutism, Cleft palate, Feeding difficulties, Thick eyebrow, Hearing ... |
OMIM:614607 |
Foveal Hypoplasia 2 |
|
Posterior embryotoxon, Axenfeld anomaly, Astigmatism, Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Immunodeficiency 104 |
|
Recurrent opportunistic infections, Oral ulcer, Gastroesophageal reflux, T lymphocytopenia, Diarr... |
OMIM:608971 |
Anophthalmia Plus Syndrome |
|
Non-midline cleft lip, Facial cleft, Abnormal nasal morphology, Choanal atresia, Cleft palate, Bi... |
ORPHA:1104 |
Frontonasal Dysplasia 3 |
|
Underdeveloped nasal alae, Cleft palate, Wide nasal bridge, Facial cleft |
OMIM:613456 |
Polydactyly, Postaxial, Type A6 |
|
Abnormality of dental morphology, Abnormality of the nail, Postaxial foot polydactyly, Abnormal s... |
OMIM:615226 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Conjunctivitis, Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, D... |
OMIM:612692 |
Gómez-López-Hernández Syndrome |
|
Brachycephaly, Cognitive impairment, Turricephaly, Abnormal cerebellum morphology, Midface retrus... |
ORPHA:1532 |
Muckle-Wells Syndrome |
|
Conjunctivitis, Camptodactyly of finger, Anemia, Recurrent aphthous stomatitis, Skin rash, Arthri... |
ORPHA:575 |
Lambert Syndrome |
|
Branchial anomaly, Intrauterine growth retardation |
ORPHA:1296 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Retrognathia, Downslanted palpebral fissures, High palate, Hyperextensibility of the finger joint... |
OMIM:616914 |
Melorheostosis |
|
Arthritis, Increased bone mineral density, Joint stiffness, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
Nicolaides-Baraitser Syndrome |
|
Abnormal testis morphology, Eczema, Everted lower lip vermilion, Abnormal hair pattern, Smooth ph... |
ORPHA:3051 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD4-positive helper ... |
ORPHA:169154 |
Muenke Syndrome |
|
Dental malocclusion, Downslanted palpebral fissures, Amblyopia, High palate, Sensorineural hearin... |
OMIM:602849 |
Liang-Wang Syndrome |
|
Downslanted palpebral fissures, Megalocornea, Macrodontia of permanent maxillary central incisor,... |
OMIM:618729 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Synophrys, Gingival fibromatosis, Ataxia, Hirsutism, Generalized hirsu... |
ORPHA:2026 |
Classic Mycosis Fungoides |
|
Alopecia, Abnormal eyelid morphology, Skin rash, Eczema, Abnormality of the nail, Lymphadenopathy... |
ORPHA:2584 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Hypoplasia of the thymus, Eczema, Meningitis, Chronic diarrhea, Hematemesis... |
ORPHA:906 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Retrognathia, Downslanted palpebral fissures, Epicanthus, Synophrys, Myopia, Clinodactyly of the ... |
ORPHA:1390 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Conical tooth, Everted upper lip vermilion, Microdontia, Taurodontia, Eczema, Everted lower lip v... |
OMIM:305100 |
Acrodermatitis Enteropathica |
|
Corneal erosion, Abnormality of the nail, Chronic diarrhea, Furrowed tongue, Abnormality of the t... |
ORPHA:37 |
Alopecia Universalis Congenita |
|
Absent eyelashes, Alopecia universalis, Absent pubic hair, Absent eyebrow, Absent axillary hair |
OMIM:203655 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Arthritis, Joint stiffness, Knee osteoa... |
ORPHA:566943 |
Cockayne Syndrome Type 1 |
|
Diarrhea, Widely spaced primary teeth, Elevated hepatic transaminase, Hepatomegaly, Hearing impai... |
ORPHA:90321 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Corneal erosion, Abnormality of the anus, Diarrhea, Keratoconjunctivitis sicca, Elevated hepatic ... |
ORPHA:95455 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormality of B cell physiology, Cerebral vasculitis, Impaired T cell function, Recurrent viral ... |
OMIM:613179 |
Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3152 |
Smith-Magenis Syndrome |
|
Conductive hearing impairment, Toe syndactyly, Micrognathia, Synophrys, Taurodontia, Feeding diff... |
ORPHA:819 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Epicanthus, Micrognathia, Sparse eyelashes, Persistent pupillary membr... |
OMIM:257850 |
Developmental And Epileptic Encephalopathy 66 |
|
Downslanted palpebral fissures, Anemia, Macrodontia of permanent maxillary central incisor, Wide ... |
OMIM:618067 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
49,Xxxxy Syndrome |
|
Delayed eruption of teeth, Epicanthus, Taurodontia, Elbow dislocation, Cleft palate, Talipes equi... |
ORPHA:96264 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Pachydermoperiostosis |
|
Peptic ulcer, Abnormal hair pattern, Hepatomegaly, Splenomegaly, Hyperhidrosis, Osteomyelitis, Ar... |
ORPHA:2796 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Neurofibromas, Intestinal obstruction, Dysphagia |
OMIM:606764 |
Schimke Immuno-Osseous Dysplasia |
|
Ischemic stroke, Microdontia, Abnormality of primary molar morphology, Abnormal intestine morphol... |
ORPHA:1830 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the liver, Nausea and vomiting, Abdominal pain, Ab... |
ORPHA:543 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Conjunctivitis, Finger swelling, Anemia, Increased circulating antibody level, Skin rash, Arthrit... |
OMIM:617591 |
Infant Botulism |
|
Hypotension, Diplopia, Mydriasis, Cerebral palsy, Cardiac arrest, Abdominal pain, Keratoconjuncti... |
ORPHA:178478 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Hallux valgus, Premature graying of hair, Chronic constipation, Elbow fl... |
OMIM:256040 |
Hypotrichosis Simplex |
|
Sparse body hair, Sparse eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Sparse hair |
ORPHA:55654 |
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Congenital alopecia totalis, Alopecia universalis, Periodontitis |
OMIM:104130 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Sparse eyebrow, Gastroesophageal reflux, Long philtrum, Micrognathia, Synophrys, Keratoconjunctiv... |
ORPHA:495875 |
Hypotrichosis 4 |
|
Sparse body hair, Sparse eyebrow, Alopecia, Sparse scalp hair, Uncombable hair, Sparse eyelashes |
OMIM:146550 |
Typhoid |
|
Diarrhea, Coma, Skin rash, Cardiac arrest, Abdominal pain, Ataxia, Epistaxis, Arrhythmia, Tremor,... |
ORPHA:99745 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia, Short middle phalanx of the 5th finger, Cutaneous finger syndactyly, Myopia, Large fles... |
OMIM:203550 |
Polymicrogyria Due To Tubb2B Mutation |
|
Gray matter heterotopia, Perisylvian polymicrogyria, Cavum septum pellucidum, Lateral ventricle d... |
ORPHA:300573 |
Trichodentoosseous Syndrome |
|
Widely spaced teeth, Microdontia, Taurodontia, Fragile nails, Abnormal hair morphology |
OMIM:190320 |
Giant Cell Arteritis |
|
Sudden cardiac death, Conductive hearing impairment, Pericarditis, Amaurosis fugax, Meningitis, H... |
ORPHA:397 |
Treacher-Collins Syndrome |
|
Wide nasal bridge, Micrognathia, Tooth agenesis, Cleft palate, Glossoptosis, Abnormal dental enam... |
ORPHA:861 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Thick eyebrow, Generalized hirsutism, Hearing imp... |
ORPHA:2222 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hepatosplenomegaly, Hirsutism, Dysphagia, Feeding difficulties, Gingival... |
ORPHA:354 |
48,Xxxy Syndrome |
|
Delayed eruption of teeth, Epicanthus, Taurodontia, Elbow dislocation, Cleft palate, Talipes equi... |
ORPHA:96263 |
Yao Syndrome |
|
Oral ulcer, Diarrhea, Inflammatory abnormality of the skin, Arthritis, Skin rash, Keratoconjuncti... |
OMIM:617321 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Abnormality of the orbital region, Increased circulating IgG4 level... |
ORPHA:79078 |
Aggressive Systemic Mastocytosis |
|
Hypotension, Diarrhea, Hepatosplenomegaly, Decreased liver function, Thrombocytopenia, Abdominal ... |
ORPHA:98850 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent Haemophilus influenzae infections, Diarrhea, Absent tonsils, Hepatomegaly, Decreased pr... |
ORPHA:276 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Epicanthus, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Bone marrow hypocellularity, Thrombo... |
ORPHA:505248 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Abnormal bleeding, Biliary tra... |
ORPHA:79301 |
Zygomycosis |
|
Brain abscess, Diarrhea, Fasciitis, Blurred vision, Pericarditis, Gastritis, Colitis, Chemosis, H... |
ORPHA:73263 |
Cohen Syndrome |
|
Tapered finger, Micrognathia, Feeding difficulties in infancy, Thick eyebrow, Nyctalopia, Myopia,... |
OMIM:216550 |
Lowry-Maclean Syndrome |
|
Retrognathia, Talon cusp, Downslanted palpebral fissures, Megalocornea, Developmental glaucoma, D... |
ORPHA:2409 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Facial cleft, Bilateral cleft lip, Bilateral cleft palate, Absent septum pellucidum |
OMIM:601357 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... |
OMIM:606719 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, Recurrent opportunistic infections, Panhypogammaglobulinemia, Purulent rhinitis, ... |
OMIM:601457 |
Hypotrichosis 11 |
|
Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars... |
OMIM:615059 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Microphthalmia |
OMIM:120433 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Cerebral cortical atrophy, Cerebellar hypoplasia, Simplified gyral pattern, Decreased thalamic vo... |
OMIM:619072 |
Congenital Varicella Syndrome |
|
Cataract, Microphthalmia |
ORPHA:291 |
Waldenström Macroglobulinemia |
|
Diarrhea, Hepatomegaly, Hearing impairment, Splenomegaly, Abnormal retinal vascular morphology, N... |
ORPHA:33226 |
Alpha-Mannosidosis |
|
Dental malocclusion, Splenomegaly, Mandibular prognathia, Narrow palate, Macrotia, Widely spaced ... |
ORPHA:61 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Hallux valgus, Epicanthus, Toe syndactyly, Synophrys, Scapular winging, ... |
ORPHA:1327 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Microphthalmia, Microcornea |
ORPHA:2528 |
Trichothiodystrophy 3, Photosensitive |
|
Tiger tail banding, Trichorrhexis nodosa, Natal tooth, Brittle hair, Bilateral cryptorchidism, Py... |
OMIM:616395 |
Listeriosis |
|
Septic arthritis, Somatic sensory dysfunction, Brain abscess, Diarrhea, Unusual CNS infection, Pe... |
ORPHA:533 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Gait ataxia, Long philtrum, Synophrys, Keratoconjunctivitis sicca, Tented philtrum, Long eyelashe... |
OMIM:618479 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
Alopecia Universalis |
|
Absent eyelashes, Alopecia universalis, Absent eyebrow, Patchy alopecia |
ORPHA:701 |
Intellectual Disability, Birk-Barel Type |
|
Incisor macrodontia, Congenital finger flexion contractures, Micrognathia, Limited elbow flexion/... |
ORPHA:166108 |
Immunodeficiency 46 |
|
Conjunctivitis, Anemia, Chronic oral candidiasis, Decreased circulating antibody level, Recurrent... |
OMIM:616740 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures |
OMIM:166740 |
Thumb Deformity And Alopecia |
|
Solitary median maxillary central incisor, Short thumb, Alopecia |
OMIM:188150 |
Sulfite Oxidase Deficiency, Isolated |
|
Cerebral visual impairment, Sulfite oxidase deficiency, Macrotia, Delayed eruption of teeth, Chor... |
OMIM:272300 |
Generalized Eruptive Keratoacanthoma |
|
Conjunctivitis, Keratoconjunctivitis sicca, Abnormal cornea morphology, Ectropion, Dysphagia |
ORPHA:411777 |
Arboleda-Tham Syndrome |
|
Recurrent aspiration pneumonia, Epicanthus, Prominent antihelix, Short hallux, Anteverted ears, D... |
OMIM:616268 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Conjunctivitis, Sparse eyebrow, Sparse eyelashes, Folliculitis, Scarring alopecia of scalp, Palmo... |
OMIM:308800 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Cirrhosis, Mucosal telangiectasiae, ... |
ORPHA:779 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Blindness, Pili torti, Reduced terminal:vellus ratio, Reduced visual acuity, Sparse hair |
OMIM:601553 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Premature graying of hair, Bone marrow hypocellularity, Sparse eyelashes,... |
OMIM:305000 |
Squamous Cell Carcinoma Of The Esophagus |
|
Nausea and vomiting, Feeding difficulties in infancy, Clinodactyly of the 5th toe, Lymphadenopath... |
ORPHA:99977 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Sensorineural hearing impairment, Delayed eruption of teeth, Iris hypopigmentation, Taurodontia, ... |
ORPHA:3214 |
Alexander Disease Type I |
|
Rosenthal fibers, Ataxia, Abnormal cerebral white matter morphology, Focal T2 hyperintense basal ... |
ORPHA:363717 |
Coffin-Siris Syndrome 3 |
|
Sparse scalp hair, High palate, Long philtrum, Wide mouth, Poor suck, Long eyelashes, Macroglossi... |
OMIM:614608 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conductive hearing impairment, Delayed eruption of teeth, Thyroid lymphangiectasia, Epicanthus, C... |
OMIM:235510 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Gait ataxia, Postural tremor, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Abnormali... |
ORPHA:101150 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Patent ductus arteriosus, Macrotia, Amblyopia, Hyperextensibility of the finger joints, Widely sp... |
OMIM:619797 |
Vici Syndrome |
|
Abnormal posturing, Everted upper lip vermilion, T lymphocytopenia, Epicanthus, Ocular albinism, ... |
OMIM:242840 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis |
OMIM:607634 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Patent ductus arteriosus, Abnormality of the philtrum, Spasticity, Downslanted palpebral fissures... |
ORPHA:2863 |
Auriculocondylar Syndrome 2 |
|
Hypoplastic superior helix, Dental malocclusion, Cleft at the superior portion of the pinna, Mand... |
OMIM:614669 |
Cardiofaciocutaneous Syndrome 1 |
|
Progressive visual loss, Epicanthus, Oculomotor apraxia, Micrognathia, Feeding difficulties in in... |
OMIM:115150 |
Roifman Syndrome |
|
Short toe, Long philtrum, Decreased T cell activation, Decreased circulating antibody level, Brac... |
ORPHA:353298 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Conjunctivitis, Alopecia, Cirrhosis, Sensorineural hearing impairment, Elevated hepatic transamin... |
OMIM:242150 |
Crouzon Syndrome |
|
Conjunctivitis, Conductive hearing impairment, Narrow palate, Narrow internal auditory canal, Amb... |
ORPHA:207 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the stomach, Neoplasm of the gastrointestinal tract, Sarcoma, Neoplasm of the rectum,... |
ORPHA:44890 |
Wild Type Abeta2M Amyloidosis |
|
Paresthesia, Abnormality of the thenar eminence, Arthritis, Macroglossia, Congestive heart failur... |
ORPHA:85446 |
Sézary Syndrome |
|
Alopecia, Abnormal immunoglobulin level, Nail dystrophy, Lymphadenopathy, Tremor, Ectropion, Hepa... |
ORPHA:3162 |
Xeroderma Pigmentosum, Complementation Group D |
|
Conjunctivitis, Spasticity, Telangiectasia, Sensorineural hearing impairment, Entropion, Choreoat... |
OMIM:278730 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Epicanthus, Micrognathia, Feeding difficulties in infancy, Camptodactyly, Hepatosplenomegaly, Int... |
OMIM:614866 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short 5th finger, Epicanthus, Everted lower lip vermilion, Hypoplastic fingernail, Bilateral sens... |
OMIM:220500 |
Shigellosis |
|
Bloody diarrhea, Thrombocytopenia, Pneumonia, Corneal ulceration, Acute colitis, Sepsis, Abscess,... |
ORPHA:810 |
Galactosemia |
|
Diarrhea, Elevated hepatic transaminase, Action tremor, Hepatomegaly, Primary amenorrhea, Feeding... |
ORPHA:352 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Coombs-positive hemolytic anemia, Hepatomegaly, Eosinophilia, Elevated proportion of CD4-negative... |
OMIM:603909 |
Muckle-Wells Syndrome |
|
Conjunctivitis, Recurrent aphthous stomatitis, Progressive sensorineural hearing impairment, Club... |
OMIM:191900 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse body hair, Sparse eyebrow, Hypohidrosis, Curly hair, Pili torti, Brittle hair, Corneal opa... |
OMIM:602400 |
Lung Cancer |
|
Lung adenocarcinoma, Alveolar cell carcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Zika Virus Disease |
|
Conjunctivitis, Wrist swelling, Myelitis, Vomiting, Transient hearing impairment, Subcutaneous he... |
ORPHA:448237 |
H Syndrome |
|
Facial telangiectasia, Hallux valgus, Bronchiectasis, Camptodactyly, Hepatosplenomegaly, Psoriasi... |
ORPHA:168569 |
Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Delayed eruption of teeth, Feeding difficulties in infancy, Ectopia lentis, I... |
ORPHA:2712 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Ataxia, Hypoplasia of the pons, Microcephaly, Cerebellar atrophy, Dysplastic corpus callosum |
OMIM:618276 |
Craniofaciofrontodigital Syndrome |
|
Palmoplantar cutis laxa, Finger joint hypermobility, Epicanthus, Gingival overgrowth, Thick hair,... |
ORPHA:363705 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Toe syndactyly, Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Sparse hair, Abnormal denta... |
ORPHA:3253 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Diarrhea, Fasciitis, Pericarditis, Myositis, Intestinal obstruction, Splenomegaly, Skin rash, Art... |
ORPHA:32960 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Central heterochromia, Long eyeb... |
OMIM:275400 |
Inhalational Anthrax |
|
Hypotension, Vomiting, Internal hemorrhage, Abnormal sweat gland morphology, Confusion, Sepsis |
ORPHA:247257 |
Erythermalgia, Primary |
|
Hyperhidrosis, Diarrhea, Blurred vision, Keratoconjunctivitis sicca, Palpitations, Xerostomia, Co... |
OMIM:133020 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Porphyria, Congenital Erythropoietic |
|
Conjunctivitis, Alopecia, Hemolytic anemia, Joint contracture of the hand, Corneal scarring, Jaun... |
OMIM:263700 |
Neuroferritinopathy |
|
Chorea, Iron accumulation in substantia nigra, Abnormal dentate nucleus morphology, Cognitive imp... |
ORPHA:157846 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Hidrotic Ectodermal Dysplasia |
|
Brittle scalp hair, Slow-growing nails, Palmoplantar hyperkeratosis, Clubbing of fingers, Absent ... |
ORPHA:189 |
Kury-Isidor Syndrome |
|
Downslanted palpebral fissures, Alopecia, High palate, Long philtrum, Low-set ears, Widely spaced... |
OMIM:619762 |
Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Microphthalmia |
OMIM:278780 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Bronchiectasis, Micrognathia, Recurrent sinusitis, Eczema, Eosinophilia, Recurrent skin infection... |
OMIM:618282 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Abnormality of thalamus morphology, Lateral ventricle dilatation, Primary microce... |
ORPHA:300570 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Recurrent aphthous stomatitis, Diarrhea, Arthritis, Abdominal pain, Acrocyanosis, Purpura, Ataxia... |
ORPHA:343 |
Mcdonough Syndrome |
|
Short palpebral fissure, Dental malocclusion, Mandibular prognathia, Macrotia, Micrognathia, Syno... |
ORPHA:2471 |
Multiple Carboxylase Deficiency |
|
Alopecia, Coma, Skin rash, Decreased circulating biotinidase concentration, Scotoma, Ataxia, Abno... |
ORPHA:148 |
Leukocyte Adhesion Deficiency |
|
Gingivitis, Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neutrophil chemota... |
ORPHA:2968 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Progressive visual loss, T lymphocytopenia, Selective tooth agenesis, Micrognathia, Neoplasm of t... |
ORPHA:2959 |
Pili Torti-Onychodysplasia Syndrome |
|
Sparse body hair, Alopecia, Brittle hair, Absent eyelashes, Alopecia universalis, Eczema, Trichod... |
ORPHA:2890 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Spasticity, Sensorineural hearing impairment, Micrognathia, Developmental cataract, Ups... |
OMIM:215100 |
Classic Galactosemia |
|
Diarrhea, Elevated hepatic transaminase, Action tremor, Hepatomegaly, Primary amenorrhea, Feeding... |
ORPHA:79239 |
Snijders Blok-Campeau Syndrome |
|
Enamel hypoplasia, Cerebral visual impairment, High palate, Widely spaced teeth, Epicanthus, Taur... |
OMIM:618205 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Roifman Syndrome |
|
Downslanted palpebral fissures, Short toe, Long philtrum, Short metacarpal, Brachydactyly, Short ... |
OMIM:616651 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Chorea, Cyanosis, Spasticity, Extrapyramidal dyskinesia, Hemiparesis, Apraxia, Myoclonus, Choreoa... |
ORPHA:71277 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microcornea, Iris coloboma, Cataract, Microphthalmia, Sclerocornea |
ORPHA:139471 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Hypomelanosis Of Ito |
|
Alopecia, Epicanthus, Thick lower lip vermilion, Clinodactyly, Hand polydactyly, Syndactyly, Iris... |
OMIM:300337 |
Kawasaki Disease |
|
Diarrhea, Pericarditis, Meningitis, Cervical lymphadenopathy, Skin rash, Arthritis, Abdominal pai... |
ORPHA:2331 |
African Trypanosomiasis |
|
Somatic sensory dysfunction, Impotence, Delirium, Diarrhea, Iritis, Choreoathetosis, Hepatospleno... |
ORPHA:3385 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Camptodactyly of finger, Alopecia, Triphalangeal thumb, Finger syndactyly, Short thumb, Abnormali... |
ORPHA:2251 |
Hermansky-Pudlak Syndrome |
|
Ocular albinism, Iris hypopigmentation, Abnormal dental enamel morphology, Amblyopia, Abdominal p... |
ORPHA:79430 |
Epithelial Recurrent Erosion Dystrophy |
|
Progressive visual loss, Irregular astigmatism, Corneal scarring, Blurred vision, Keratoconjuncti... |
ORPHA:293381 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Abnormal nasolacrimal system morphology, Corneal erosion, Scleritis, Ecz... |
ORPHA:2273 |
Pili Torti |
|
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma... |
ORPHA:2889 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis |
OMIM:126250 |
Vascular Hyalinosis |
|
Malabsorption, Protein-losing enteropathy, Hematochezia, Diarrhea |
OMIM:277175 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Restrictive cardiomyopathy, Epicanthus, Clinodactyly, Camptodactyly, Osteolysis involvi... |
ORPHA:88630 |
Antisynthetase Syndrome |
|
Pulmonary arterial hypertension, Recurrent respiratory infections, Skin rash, Telangiectasia of t... |
ORPHA:81 |
Adult Syndrome |
|
Conjunctivitis, Sparse scalp hair, Fair hair, Hypodontia, Microdontia, Oligodontia, Sparse axilla... |
OMIM:103285 |
Systemic Lupus Erythematosus 17 |
|
Chorea, Malar rash, Oral ulcer, Myelitis, Alopecia, Leukopenia, Raynaud phenomenon, Lymphopenia, ... |
OMIM:301080 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Downslanted palpebral fissures, Mandibular prognathia, High palate, Deep philtrum, Decreased circ... |
OMIM:619750 |
Mucopolysaccharidosis Type 3 |
|
Conductive hearing impairment, Abnormality of the middle ear ossicles, Synophrys, Adenoiditis, Hi... |
ORPHA:581 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Carney-Stratakis Syndrome |
|
Intestinal obstruction, Gastrointestinal hemorrhage, Paraganglioma, Dysphagia, Gastrointestinal s... |
ORPHA:97286 |
Omenn Syndrome |
|
Alopecia, Anemia, Aplasia/Hypoplasia of the eyebrow, Chronic diarrhea, Short toe, Thyroiditis, Ab... |
ORPHA:39041 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Poor fine motor coordination, Dental malocclusion, Downslanted palpebral fissures, Macrotia, Prog... |
ORPHA:436245 |
Fanconi Anemia, Complementation Group S |
|
Thick upper lip vermilion, Dental malocclusion, Anemia, Narrow palate, Epicanthus, Blepharophimos... |
OMIM:617883 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Delayed eruption of teeth, Epicanthus, Everted lower lip vermilion, Clef... |
ORPHA:915 |
Microphthalmia, Isolated 6 |
|
Microphthalmia, Microcornea |
OMIM:613517 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Blindness, Parkinsonism, Rigidity, Limb dystonia, Cl... |
ORPHA:216873 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Persistent EBV viremia, Severe varicella zoster infection, Decreased proportion of CD4-positive h... |
OMIM:300853 |
Biotinidase Deficiency |
|
Conjunctivitis, Alopecia, Recurrent candida infections, Sensorineural hearing impairment, Nonprog... |
ORPHA:79241 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Epicanthus, Micrognathia, Everted lower lip vermilion, Smooth philtrum, Hepatomegaly, Overjet, Hi... |
OMIM:618342 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Trichinellosis |
|
Central retinal artery occlusion, Babinski sign, Meningitis, Tinnitus, Dysphagia, Lethargy, Skin ... |
ORPHA:863 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia, Short nose |
OMIM:613885 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Septic arthritis, Somatic sensory dysfunction, Recurrent aspiration pneumonia, Recurrent Staphylo... |
ORPHA:642 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Conical tooth, Hypohidrosis, Sparse scalp hair, Hypodontia, Anhidrosis, Aplasia of the sweat glan... |
OMIM:612132 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Tubulointerstitial nephritis, Cleft upper lip, Conjunctivitis, Corneal ... |
ORPHA:33001 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... |
ORPHA:331235 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Downslanted palpebral fissures, High palate, Delayed eruption of teeth, Synophrys, Abnormality of... |
ORPHA:2025 |
Diarrhea 12, With Microvillus Atrophy |
|
Vomiting, Villous atrophy, Microvillus inclusions, Secretory diarrhea, Microvillar PAS-positive s... |
OMIM:619445 |
Scrub Typhus |
|
Hypotension, Hyperhidrosis, Nausea and vomiting, Skin rash, Abdominal pain, Abnormal bleeding, Ph... |
ORPHA:83317 |
Adams-Oliver Syndrome |
|
Hypoplastic fingernail, Hypertonia, Absent toe, Thrombocytopenia, Aplastic/hypoplastic toenail, S... |
ORPHA:974 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp, Perifolliculitis |
OMIM:260910 |
Li-Fraumeni Syndrome |
|
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... |
OMIM:151623 |
Dermatitis, Atopic |
|
Conjunctivitis, Allergic rhinitis, Eczema, Cataract, Recurrent skin infections, Keratoconus, Atop... |
OMIM:603165 |
Whipple Disease |
|
Hypotension, Diarrhea, Pericarditis, Myositis, Hepatomegaly, Splenomegaly, Arthritis, Abdominal p... |
ORPHA:3452 |
Frontonasal Dysplasia 2 |
|
Conical tooth, Aplasia of the nasal bone, Depressed nasal ridge, Wide nasal bridge, Cleft ala nas... |
OMIM:613451 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Conjunctivitis, Aphthous ulcer, Skin rash, Arthritis, Uveitis, Leukocytosis, Hearing impairment |
OMIM:120100 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Os... |
OMIM:166600 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Conical tooth, Enamel hypoplasia, Alopecia, Sparse scalp hair, Small nail, Pili torti, Hypoplasti... |
OMIM:613573 |
Trichorhinophalangeal Syndrome, Type I |
|
Ivory epiphyses of the distal phalanges of the hand, Leukonychia, Delayed eruption of teeth, Micr... |
OMIM:190350 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Low alkaline phosphatase, Diarrhea, Hypogonadism, Poor appetite, Decreased testicular size, Ataxi... |
OMIM:201100 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia universalis, Alopecia totalis, Nail pits, Patchy alopecia |
OMIM:104000 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Hypertelorism, Plagiocephaly, Chiari type I malformation, Agenesis of corpus callosum |
ORPHA:459074 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly, Microphthalmia |
OMIM:610023 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Cri-Du-Chat Syndrome |
|
Premature graying of hair, Epicanthus, Feeding difficulties in infancy, Bifid uvula, Hypertonia, ... |
OMIM:123450 |
Erythrokeratodermia Variabilis |
|
Alopecia, Tapered finger, Abnormal testis morphology, Skin rash, Abnormality of the nail, Patchy ... |
ORPHA:317 |
Hamamy Syndrome |
|
Neck pterygia, Short 2nd finger, Tapered finger, Micrognathia, Everted lower lip vermilion, Hypop... |
OMIM:611174 |
Cln3 Disease |
|
Progressive visual loss, Amblyopia, Blindness, T-wave inversion, Ataxia, Cataract, Hirsutism, Bra... |
ORPHA:228346 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Enamel hypoplasia, Alopecia, Telangiectasia, Sparse lateral eyebrow, Facial telangiectasia, Yello... |
OMIM:614564 |
Aredyld Syndrome |
|
Sparse body hair, Mandibular prognathia, Aplasia/Hypoplasia of the eyebrow, Abnormal tragus morph... |
ORPHA:1133 |
Pediatric Systemic Lupus Erythematosus |
|
Diarrhea, Myositis, Thrombocytopenia, Malar rash, Alopecia, Discoid lupus rash, Skin rash, Arthri... |
ORPHA:93552 |
Autosomal Dominant Keratitis |
|
Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov... |
ORPHA:2334 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
T lymphocytopenia, Eczema, Hepatosplenomegaly, Erythroderma, Chronic diarrhea, Recurrent viral in... |
OMIM:606367 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Fusion of the left and right thalami, Agenesis of corpus callosum, Abnorm... |
OMIM:617542 |
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Retrognathia, Spasticity, Cerebral visual impairment, High palate, Tapered finger, Wide mouth, Ep... |
OMIM:615722 |
Cinca Syndrome |
|
Anemia, Sensorineural hearing impairment, Blindness, Abnormal granulocyte morphology, Nausea and ... |
ORPHA:1451 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis |
OMIM:122860 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Arthritis, Infertility, Azoospermia, Congestive heart failure, Dilated cardiomyopathy,... |
OMIM:602390 |
Incontinentia Pigmenti |
|
Camptodactyly of finger, Delayed eruption of teeth, Hemiplegia/hemiparesis, Supernumerary nipple,... |
ORPHA:464 |
Momo Syndrome |
|
Dental malocclusion, Downslanted palpebral fissures, High palate, Long philtrum, Blindness, Delay... |
OMIM:157980 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Anemia, Chronic diarrhea, Severe infection, Villous atrophy, Hepatitis, Arthritis, Coom... |
OMIM:304790 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Griscelli Syndrome |
|
Leukopenia, Spasticity, Abnormal eyebrow morphology, Premature graying of hair, Decreased circula... |
ORPHA:381 |
Craniosynostosis 3 |
|
Dental malocclusion, Hallux valgus, Ptosis, Single transverse palmar crease, Brachydactyly, Low a... |
OMIM:615314 |
Chronic Graft Versus Host Disease |
|
Diarrhea, Bronchiectasis, Fasciitis, Keratoconjunctivitis sicca, Elevated hepatic transaminase, A... |
ORPHA:99921 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Conical tooth, Hypoplastic toenails, Delayed eruption of teeth, Hypodontia, Abnormality of dental... |
ORPHA:2228 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cognitive impairment, Motor deterioration, Dementia, Abnormal cerebral white matter morphology, F... |
ORPHA:79264 |
Ogden Syndrome |
|
Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Macrotia, Everted upper lip ve... |
ORPHA:276432 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Gait ataxia, Dental malocclusion, Downslanted palpebral fissures, Mandibular prognathia, High pal... |
OMIM:618292 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Dental malocclusion, Widely spaced teeth, Attenuation of retinal blood vessels, Cataract, Attache... |
OMIM:616108 |
Severe Canavan Disease |
|
Gastroesophageal reflux, Spasticity, Vomiting, Blindness, Gastrostomy tube feeding in infancy, Po... |
ORPHA:314911 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Neoplasm of the rectum, Intestinal bleeding, Anal canal adenocarcinoma, Ne... |
ORPHA:424016 |
Bullous Dystrophy, Hereditary Macular Type |
|
Tapered finger, Short finger, Acrocyanosis, Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Juvenile Temporal Arteritis |
|
Conjunctivitis, Cerebral ischemia, Allergic rhinitis, Eosinophilia, Leukocytosis, Vasculitis |
ORPHA:26137 |
Alopecia Areata 2 |
|
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis |
OMIM:610753 |
Temple-Baraitser Syndrome |
|
Everted upper lip vermilion, Delayed eruption of teeth, Epicanthus, Everted lower lip vermilion, ... |
ORPHA:420561 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Nausea and vomiting, Coma, Abdominal pain, Choreoathetosis, Pancreatitis, Anorexia, Feedi... |
ORPHA:79312 |
Lynch Syndrome 8 |
|
Colon cancer, Adenomatous colonic polyposis, Endometrial carcinoma, Hereditary nonpolyposis color... |
OMIM:613244 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Diarrhea, Abnormal testis morphology, Hepatosplenomegaly, Oligosp... |
ORPHA:85450 |
Monosomy 18P |
|
Abnormal antihelix morphology, Alopecia, Macrotia, Epicanthus, Micrognathia, Hypodontia, Short ph... |
ORPHA:1598 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Macrotia, Hyper... |
ORPHA:2850 |
Gaba-Transaminase Deficiency |
|
Retrognathia, Downslanted palpebral fissures, Feeding difficulties, Lethargy |
OMIM:613163 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Spasticity, High palate, Epicanthus, Posteriorly rotated ears, Low-set ears, Conjunctival hyperemia |
OMIM:619548 |
Otodental Dysplasia |
|
Enamel hypoplasia, Sensorineural hearing impairment, Long philtrum, Delayed eruption of teeth, Pu... |
OMIM:166750 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Deep philtrum, Short metacarpal, Microdontia, Synophrys, Clinodactyly, Radioulnar syn... |
OMIM:605282 |
Catifa Syndrome |
|
Amblyopia, Long philtrum, Delayed eruption of teeth, Epicanthus, Microtia, Camptodactyly, Develop... |
OMIM:618761 |
Marburg Hemorrhagic Fever |
|
Hypotension, Bloody diarrhea, Diarrhea, Elevated hepatic transaminase, Reticulocytosis, Pericardi... |
ORPHA:99826 |
Rubinstein-Taybi Syndrome 1 |
|
Polydactyly, Epicanthus, Micrognathia, Broad eyebrow, Feeding difficulties in infancy, Frontal hi... |
OMIM:180849 |
22Q11.2 Deletion Syndrome |
|
Conductive hearing impairment, Hypoplasia of the thymus, Epicanthus, Micrognathia, Feeding diffic... |
ORPHA:567 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Septic arthritis, Enteroviral dermatomyositis syndrome, Panhypogammaglobulinemia,... |
OMIM:307200 |
Congenital Primary Aphakia |
|
Sclerocornea, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Conge... |
ORPHA:83461 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Crusting erythematous dermatitis, Elevated hepatic transaminase, Eczema, Myositis, Abnormal intes... |
ORPHA:37042 |
Glut1 Deficiency Syndrome 1 |
|
Spasticity, Paroxysmal dystonia, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia, Babi... |
OMIM:606777 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... |
ORPHA:500166 |
Oculocerebrocutaneous Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Wide mouth, Facial cleft, Cerebellar hypoplasia, Orofa... |
ORPHA:1647 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Abnormal basal ganglia morphology, Decreased thalamic volume |
OMIM:618646 |
Short Syndrome |
|
Abnormal pupil morphology, Alopecia, Abnormal anterior chamber morphology, Abnormal mandible morp... |
ORPHA:3163 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Epicanthus, Ocular albinism, Fair hair, Impaired ADP-induced pl... |
OMIM:608233 |
Hypohidrosis With Abnormal Palmar Dermal Ridges |
|
Decreased number of sweat glands, Hypohidrosis, Abnormal palmar dermal ridges |
OMIM:241120 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Alopecia, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair |
ORPHA:505 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Progressive visual loss, Blindness, Concentric hypertrophic cardiomyopathy, Parkinsonism, Abnorma... |
OMIM:204200 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Iris coloboma, Microphthalmia, Corneal opacity |
ORPHA:1473 |
Hypermobile Ehlers-Danlos Syndrome |
|
Gingivitis, Epicanthus, Microdontia, Keratoconjunctivitis sicca, Abnormality of the wrist, Elbow ... |
ORPHA:285 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Gray matter heterotopia, Abnormal... |
ORPHA:370959 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma |
OMIM:612591 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Short palpebral fissure, Long philtrum, Myopia, High myopia, Hypertension, Broad distal phalanx o... |
OMIM:617763 |
Robin Sequence-Oligodactyly Syndrome |
|
Micrognathia, Glossoptosis, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Microphthalmia, Decreased corneal thickness, Flat cornea, Scleroc... |
OMIM:217300 |
Hepatic Venoocclusive Disease With Immunodeficiency |
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Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level |
OMIM:235550 |
Cerebroretinal Microang |