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 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... |
ORPHA:247798 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Microphthalmia, Anophthalmia, Iris coloboma |
OMIM:616428 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma |
OMIM:135290 |
Hereditary Mixed Polyposis Syndrome |
|
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... |
ORPHA:157794 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Sparse hair, Microdontia,... |
OMIM:129400 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Male hypogonadism, Alopecia universalis, ... |
OMIM:240300 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Trichothiodystrophy |
|
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, High, narrow palate, Abnormal pyr... |
ORPHA:33364 |
Agel Amyloidosis |
|
Tongue atrophy, Cataract, Ataxia, Orthostatic hypotension due to autonomic dysfunction, Bilateral... |
ORPHA:85448 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Mixed Connective Tissue Disease |
|
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Meningitis, Hepatomegaly, Alopecia, He... |
ORPHA:809 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Cerebral calcification, Cerebellar calcifications, Basal ganglia calcification, Chorea, Athetosis... |
OMIM:615483 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Protruding ear, Microcornea, Photophobia, Sparse hair, Tiger tail banding, Decrease... |
OMIM:601675 |
Kid Syndrome |
|
Angular cheilitis, Equinus calcaneus, Scarring alopecia of scalp, Posterior blepharitis, Prelingu... |
ORPHA:477 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin... |
OMIM:619079 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Sepsis, Glossoptosis, Conjunctivitis, Neutropenia, Chronic otitis media, Meningitis, R... |
ORPHA:47 |
Tularemia |
|
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Mediastinal lymphadenopathy, ... |
ORPHA:3392 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent... |
OMIM:240500 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Macrotia, ... |
OMIM:234050 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Blindness, Cataract, Abnormal fingernail morphology, Corneal dy... |
ORPHA:1806 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Absent pubic hair, Photophobia, Microdontia, Sparse eyebrow, Corneal scarring, Absent axillary ha... |
OMIM:148210 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal dental morphology, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic... |
ORPHA:2722 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Abnormality of the dentition, Hearin... |
OMIM:612841 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, B... |
OMIM:607594 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... |
OMIM:175100 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Alopecia, Recurrent ... |
ORPHA:499 |
Recon Progeroid Syndrome |
|
Smooth philtrum, Attached earlobe, Prominence of the premaxilla, Dental crowding, Arachnodactyly,... |
OMIM:620370 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Microcephaly, Broad nasal tip, Micrognathia, Facial cleft, Cleft palate, Bifid n... |
OMIM:239800 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Facial cleft, Abnormal oral frenulum morphology, Sol... |
ORPHA:952 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Mucoepithelial Dysplasia, Hereditary |
|
Erythematous oral mucosa, Photophobia, Coarse hair, Sparse hair, Alopecia, Chronic diarrhea, Blin... |
OMIM:158310 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Behçet Disease |
|
Myositis, Myocardial infarction, Anorexia, Pulmonary embolism, Abnormal pyramidal sign, Oral ulce... |
ORPHA:117 |
Poikiloderma With Neutropenia |
|
Micrognathia, Leukopenia, Conjunctivitis, Neutropenia, Sparse eyebrow, Recurrent bronchopulmonary... |
OMIM:604173 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia |
OMIM:251505 |
Tenorio Syndrome |
|
Mandibular prognathia, Telecanthus, Cerebral palsy, Raynaud phenomenon, Recurrent pneumonia, Clum... |
OMIM:616260 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Diarrhea 9 |
|
Diarrhea, Villous atrophy |
OMIM:618168 |
Rubinstein-Taybi Syndrome 2 |
|
Micrognathia, High palate, Prominent fingertip pads, Posterior helix pit, Syndactyly, Broad hallu... |
OMIM:613684 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Flat occiput, Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, ... |
OMIM:608716 |
48,Xxyy Syndrome |
|
Tremor, Feeding difficulties in infancy, Gastroesophageal reflux, Chronic otitis media, Clinodact... |
ORPHA:10 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Hypoplasia of the pons, Attention deficit hyp... |
ORPHA:467166 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Abdominal pain, Mediastinal lymphaden... |
ORPHA:91138 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Conjunctiviti... |
OMIM:603552 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Cognitive impairment, E... |
ORPHA:397725 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Basal ganglia calcification, Chorea, Hypoesthesia, Dysmetria, Thalamic calcification, Men... |
OMIM:618317 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Cockayne Syndrome |
|
Dry hair, Feeding difficulties in infancy, Photophobia, Progressive gait ataxia, Retinal arteriol... |
ORPHA:191 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Supernumerary Nostril |
|
Abnormality of ethmoid sinus, Supernumerary naris, Facial cleft, Choanal atresia |
ORPHA:141096 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Cer... |
OMIM:604213 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Cataract, Sparse e... |
OMIM:129500 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Microphthalmia, Anophthalmia, Wide nasal bridge |
OMIM:615524 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Sepsis, Uveitis, Inflammation o... |
OMIM:614700 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Abnormal dental morphology, Abnorma... |
ORPHA:238468 |
Hepatoerythropoietic Porphyria |
|
Abnormal bleeding, Recurrent bacterial skin infections, Abnormal circulating enzyme concentration... |
ORPHA:95159 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Cerebellar calcifications, Basal ganglia calcification, Limb ataxia, Thalamic calcification, Ment... |
OMIM:618824 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Micrognathia, Achal... |
OMIM:616007 |
Candidiasis, Familial, 1 |
|
Alopecia, Recurrent viral infections, Cutaneous anergy, Chronic mucocutaneous candidiasis, Premat... |
OMIM:114580 |
Cranioectodermal Dysplasia |
|
Myopia, Epicanthus, Finger syndactyly, Abnormal fingernail morphology, Abnormal dental enamel mor... |
ORPHA:1515 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Impaired temperature sensation, Micrognathia, Equinus calcaneus, Periodontitis, High palate, Prem... |
ORPHA:536532 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Anorectal anomaly, Hyperhidros... |
ORPHA:1775 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Nasogastric tube feeding in i... |
OMIM:106260 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:261800 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Abnormal sweat gland morphology, Ab... |
OMIM:607823 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Underdeveloped nasal alae, Abnormality of the nose, Abnormality of the dentitio... |
ORPHA:1794 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Periodo... |
ORPHA:1008 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Cari... |
OMIM:612843 |
Cockayne Syndrome Type 3 |
|
Dry hair, Premature graying of hair, Microcornea, Photophobia, Lentiglobus, Gastroesophageal refl... |
ORPHA:90324 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Alopecia, Ataxia, Eczema, Anorexia, Keratoconjunctivitis, Lethargy, Thromboc... |
ORPHA:79242 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... |
OMIM:617388 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glan... |
OMIM:617337 |
Hypotrichosis 3 |
|
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Abnormal sweat glan... |
OMIM:613981 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... |
ORPHA:227990 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Dental crowding, High palate, Hepatomegaly, Ataxia, Thick vermilion border, Apraxia, Broad philtr... |
OMIM:616354 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin... |
ORPHA:33110 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Sparse scalp hair, Alopecia, Delayed eruption of teeth, Abnormal fingernai... |
ORPHA:2325 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... |
ORPHA:227982 |
Abetalipoproteinemia |
|
Impaired distal proprioception, Impaired proprioception, Dysmetria, Gait ataxia, Hepatic fibrosis... |
ORPHA:14 |
Congenital Erythropoietic Porphyria |
|
Anisocytosis, Increased stool urobilinogen concentration, Scarring alopecia of scalp, Increased f... |
ORPHA:79277 |
Cronkhite-Canada Syndrome |
|
Anorexia, Hypoplastic toenails, Hamartomatous polyposis, Stomach cancer, Dystrophic fingernails, ... |
ORPHA:2930 |
Ifap Syndrome 2 |
|
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Photophobia, Keratoconjunctivitis ... |
OMIM:619016 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Brittle hair, Micrognathia, Clinodactyly, Abnormality of the ear, Microcor... |
ORPHA:2710 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Conductive hearing impairment, Abnormal s... |
ORPHA:2363 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Palmoplantar hyperkeratosis, Premature loss of teeth, Subungual hyperkeratosis, Abnormal dental m... |
ORPHA:69087 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Caudate atrophy, Basal ganglia calcification, T2 hypointense thalamus, Leukoencephalopathy, Demen... |
OMIM:618193 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Epicanthus, Posteriorly rotated ears, Single transverse palmar crease, Cryptorchidism, Patent duc... |
OMIM:615502 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Chorea, Xerostomia, Tubulointerstitial nep... |
ORPHA:289390 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Smooth philtrum, Corneal opacity, Posteriorly rotated ears, Micrognathia, Keratitis, Synophrys, W... |
OMIM:602562 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis, Lymphadenopathy |
OMIM:617772 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the parathyroid gland, ... |
ORPHA:2552 |
Parc Syndrome |
|
Microretrognathia, Absent eyebrow, Alopecia, Absent eyelashes, Cleft palate |
OMIM:600331 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
Filippi Syndrome |
|
Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, Cutaneous syndactyly, Finger... |
OMIM:272440 |
Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... |
ORPHA:1791 |
Chromomycosis |
|
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca, Abnormality of the upper l... |
ORPHA:182 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Short attention span, Abno... |
ORPHA:500166 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Hepatomegaly, Lower limb spasticity, Ataxia, Delayed eruption of primary t... |
ORPHA:90322 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Ataxia, Poliosis, Dental malocclusion, Horner syndrome... |
OMIM:141300 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:311895 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Cerebrooculonasal Syndrome |
|
Facial cleft, Widely spaced teeth, High palate, Solitary median maxillary central incisor, Long p... |
ORPHA:66625 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... |
OMIM:300755 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Alopecia, Cataract, Oral mucosal blisters, Esophageal strictu... |
OMIM:226600 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ... |
ORPHA:1896 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinop... |
OMIM:602450 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Epicanthus, Ataxia, Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Spa... |
OMIM:619692 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Ataxia, T2 hypointense thalamus, Cerebral atrophy, Gait ataxia, Dementia, Cog... |
ORPHA:1947 |
Sandhoff Disease |
|
Recurrent respiratory infections, Hepatomegaly, Blindness, Ataxia, Splenomegaly, Congestive heart... |
ORPHA:796 |
Hereditary Acrokeratotic Poikiloderma |
|
Xerostomia, Gingivitis, Palmoplantar hyperkeratosis, Dystrophic fingernails, Finger syndactyly, O... |
ORPHA:2907 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Nausea and vomiting, Cerebral palsy, Skin rash, Ataxia, Abdominal pai... |
ORPHA:36412 |
Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Ataxia, Seborrheic dermatitis, Feed... |
OMIM:253260 |
Acrofacial Dysostosis, Catania Type |
|
Smooth philtrum, Microretrognathia, Microcephaly, Abnormality of the dentition, Carious teeth, Fa... |
ORPHA:1786 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Synophrys, Low anterior hairline, Short philtrum, Widely spaced teeth, Gastroesophageal reflux, M... |
OMIM:619293 |
Renpenning Syndrome |
|
Mandibular prognathia, High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, Iris ... |
ORPHA:3242 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Choanal atresia, Cleft upper lip, High, narrow palate, Depressed nasal ri... |
OMIM:607597 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Diarrhea, Vomiting, Protein-losing enteropathy, Villous atrophy |
OMIM:615863 |
Cranioectodermal Dysplasia 4 |
|
Epicanthus, Nyctalopia, Recurrent pneumonia, Onychogryposis, Hypermetropia, Protruding ear, Thin ... |
OMIM:614378 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma |
OMIM:614497 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in... |
OMIM:615237 |
Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip |
OMIM:600251 |
Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Tubulointerstitial nephrit... |
ORPHA:797 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... |
OMIM:613493 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Cataract, Band keratopathy, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chr... |
OMIM:269200 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Abnormal nasolacr... |
ORPHA:3220 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Alopecia, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption,... |
ORPHA:100025 |
Coffin-Siris Syndrome 2 |
|
Low anterior hairline, High palate, Short philtrum, Cryptorchidism, Thick vermilion border, Absen... |
OMIM:614607 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Skin rash, Eczema, Raynaud phenomenon, Mediastinal lymphadenopathy, Severe viral in... |
ORPHA:79128 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Abdomina... |
OMIM:142680 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Diarrhea, Oral... |
OMIM:608971 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Otodental Syndrome |
|
Lens coloboma, Microcornea, Periodontitis, Otitis media with effusion, Abnormal dental pulp morph... |
ORPHA:2791 |
Zimmermann-Laband Syndrome |
|
Micrognathia, Large fleshy ears, High palate, Absent fingernail, Bifid uvula, Hepatomegaly, Super... |
ORPHA:3473 |
Nicolaides-Baraitser Syndrome |
|
High, narrow palate, Abnormal finger morphology, Short palm, Sparse hair, Alopecia, Curly eyelash... |
ORPHA:3051 |
Cach Syndrome |
|
Cerebellar atrophy, Progressive neurologic deterioration, Microcephaly, T2 hypointense thalamus, ... |
ORPHA:135 |
Oculodentodigital Dysplasia |
|
Dry hair, Selective tooth agenesis, Clinodactyly, Uveitis, Microcornea, High palate, Joint contra... |
OMIM:164200 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Sepsis, Gastrointestinal... |
ORPHA:95455 |
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Keratitis, Abnormal hair morphology, Patent ductus arteriosus, Sensorineural hearing impairment, ... |
OMIM:122430 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon |
OMIM:609218 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... |
OMIM:114500 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Myopia, Alopecia, Ataxia, Decreased response to growth hormone stimulation test, Abnormality of t... |
ORPHA:3363 |
Anophthalmia Plus Syndrome |
|
Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Facial cleft, Cleft palate, Bi... |
ORPHA:1104 |
Giant Cell Arteritis |
|
Anorexia, Hyperhidrosis, Gastrointestinal infarctions, Conductive hearing impairment, Meningitis,... |
ORPHA:397 |
Frontonasal Dysplasia 3 |
|
Facial cleft, Wide nasal bridge, Cleft palate, Underdeveloped nasal alae |
OMIM:613456 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse scalp hair, Natal tooth, Sparse eyelashes, Sparse eyebrow, Hypoplastic sweat glands, Oligo... |
OMIM:601345 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacteria... |
OMIM:612692 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Oral ulcer, Recurrent candida infections, T lymphocytopenia, Increase... |
ORPHA:169154 |
Acrodermatitis Enteropathica |
|
Ridged nail, Anorexia, Abnormal eyelid morphology, Poor appetite, Paronychia, Photophobia, Conjun... |
ORPHA:37 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Abdominal pain, Splenomegaly, Vas... |
ORPHA:575 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Ataxia, Diastema, Synophrys, Gingival overgrowth, Downturned corners of... |
OMIM:618729 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Tremor, Decreased beta-galactosidase activity, Gastroesophageal reflux, De... |
ORPHA:354 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Ectopia lentis, Feedin... |
OMIM:616914 |
Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Neutropenia, Microdontia, Minimal change glomerulonephritis, Abnormal p... |
ORPHA:1830 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Feeding difficulties in infancy,... |
ORPHA:819 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Skin rash, Eczema, Abnormal eyelid morphology, Splenomegaly, Lymphadenopa... |
ORPHA:2584 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Pulmonary embolism, Tremor, Gastroesophageal reflux, Chronic otitis media,... |
ORPHA:96264 |
Muenke Syndrome |
|
Brachydactyly, Broad hallux, Hearing impairment, Amblyopia, Capitate-hamate fusion, Sensorineural... |
OMIM:602849 |
Gómez-López-Hernández Syndrome |
|
Turricephaly, Cerebellar vermis hypoplasia, Ataxia, Hypertelorism, Impaired pain sensation, Abnor... |
ORPHA:1532 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Myopia, Cryptorchidism, Synophrys, Hypermetropia, Downturned corners of... |
OMIM:618067 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Sparse h... |
OMIM:305100 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Myopia, Epicanthus, Brachydactyly, Abnormal retinal vascular m... |
ORPHA:1390 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Tremor, Uveitis, Photophobia, Widely ... |
ORPHA:90321 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Ataxia, Abnormality of the dentition, Synophrys, Hirsutism, Gingival o... |
ORPHA:2026 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Tremor, O... |
OMIM:613179 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys... |
ORPHA:300573 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Pachydermoperiostosis |
|
Impaired temperature sensation, Hyperhidrosis, Genu varum, Hepatomegaly, Acne, Abnormal fingernai... |
ORPHA:2796 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Pulmonary embolism, Tremor, Gastroesophageal reflux, Chronic otitis media,... |
ORPHA:96263 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Microcornea, Persistent pupillary membr... |
OMIM:257850 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Intracranial hemorrhage, In... |
ORPHA:906 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... |
ORPHA:543 |
Infant Botulism |
|
Ptosis, Cerebral palsy, Cardiac arrest, Anorexia, Abdominal pain, Bowel incontinence, Diplopia, X... |
ORPHA:178478 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Corneal opacity, Corneal dystrophy, Micrognathia, Sparse eyebrow, Cryptorchidism, ... |
ORPHA:495875 |
Cohen Syndrome |
|
Decreased response to growth hormone stimulation test, Single transverse palmar crease, Micrognat... |
OMIM:216550 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Branchial fistula, Abnormal d... |
ORPHA:861 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Conical tooth, Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG... |
ORPHA:98813 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Alopecia, Telecanthus, Myopia, Carious teeth, Large fles... |
OMIM:203550 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Short attention span, Cerebellar vermis hypoplasia, Flat occiput, Partial agenesi... |
ORPHA:300570 |
Lowry-Maclean Syndrome |
|
Corneal opacity, Single transverse palmar crease, Delayed eruption of primary teeth, Micrognathia... |
ORPHA:2409 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia |
OMIM:606764 |
Aggressive Systemic Mastocytosis |
|
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... |
ORPHA:98850 |
Trichodentoosseous Syndrome |
|
Abnormal hair morphology, Taurodontia, Widely spaced teeth, Microdontia, Fragile nails |
OMIM:190320 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Pancytopenia, Dystonia, Ataxia, Portal hypertension, Retinal telangi... |
OMIM:617341 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Premature graying of hair, Increased circulating IgG level, Conjunctivitis, He... |
OMIM:256040 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Amblyopia, Cryptorchidism, Pa... |
OMIM:619797 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Hepatomegaly, Recurrent respiratory infections, Cataract, Corneal opacity,... |
ORPHA:61 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Thromb... |
OMIM:617591 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Hyperhidrosis, Photophobia, Leukopenia, Increased circulating IgG ... |
ORPHA:99827 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... |
OMIM:617321 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Sepsis, Leukopenia, Conjunctivitis, Decreased circulating IgG level, Tricuspid regurgitation, Pat... |
ORPHA:505248 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Blindness, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA... |
ORPHA:79078 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Absent septum pellucidum, Bilateral cleft lip, Cleft upper lip, Facial cleft |
OMIM:601357 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Abnormal bleeding, Mala... |
ORPHA:79301 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Ataxia, Epistaxis, Abdominal pain, Tremor, ... |
ORPHA:99745 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:120433 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Cerebellar hypoplasia, Hypopla... |
OMIM:619072 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti... |
ORPHA:2222 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Diarrhea, Arthritis, T lymphocy... |
OMIM:601457 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Limb dystonia, Blindness, Tongue atrophy, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyrami... |
ORPHA:216873 |
Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Highly arched eyebrow, Micrognathia, High, narrow palate, Incisor mac... |
ORPHA:166108 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Meckel diverticulum, Brittle hair, Cataract, Hearing impairment, Increased circulati... |
OMIM:616395 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:2528 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Smooth philtrum, Laterally extended eyebrow, Posteriorly rotated ears, Synophrys, Tented philtrum... |
OMIM:618479 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Attached earlobe, Synophrys, Microcornea, Downturned corners of mouth, Hig... |
ORPHA:1327 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia,... |
OMIM:616740 |
Roifman Syndrome |
|
Delayed proximal femoral epiphyseal ossification, Downturned corners of mouth, Clinodactyly of th... |
ORPHA:353298 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Cerebral visual impairment, Bilateral cryptorchidism, Anteverted ears, Dow... |
OMIM:616268 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero... |
OMIM:235510 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Generalized dystonia, Ataxia, Eczema, Sulfite oxidase deficiency, Ecto... |
OMIM:272300 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Thumb Deformity And Alopecia |
|
Solitary median maxillary central incisor, Short thumb, Alopecia |
OMIM:188150 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Ectropion |
ORPHA:411777 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Classic Galactosemia |
|
Sepsis, Vomiting, Lethargy, Male infertility, Hepatomegaly, Premature ovarian insufficiency, Atax... |
ORPHA:79239 |
Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice... |
ORPHA:779 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Squamous Cell Carcinoma Of The Esophagus |
|
Nausea and vomiting, Feeding difficulties in infancy, Esophageal carcinoma, Lymphadenopathy, Clin... |
ORPHA:99977 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Blindness, Reduced terminal:vellus ratio, Reduced visual acuity, Sparse hair, Pili torti |
OMIM:601553 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Rhizomelia, Micrognathia, Sensorineural hearing impairment, Flared metaphysis, Cleft pa... |
OMIM:215100 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Hypopigmentation of hair, Abnormal size of the palpebral fissures, Mac... |
ORPHA:3214 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Corneal dystrophy, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Photo... |
OMIM:308800 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Abnormal thalamic MRI signal intensity, Abnormal cerebral white matte... |
ORPHA:363717 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Pterygium of nails, Hyperhidrosis, Premature graying of hair, Leukopenia, Conjunctiv... |
OMIM:305000 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Sézary Syndrome |
|
Hepatomegaly, Alopecia, Abnormal immunoglobulin level, Tremor, Splenomegaly, Lymphadenopathy, Pal... |
ORPHA:3162 |
Coffin-Siris Syndrome 3 |
|
Sparse scalp hair, Ptosis, Thick eyebrow, Hearing impairment, Short distal phalanx of the 5th fin... |
OMIM:614608 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ... |
OMIM:603909 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Hearing impairmen... |
OMIM:614669 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Elevated hepatic transaminase, Alopecia, Myopia, Sensorineural hearing impairment, P... |
OMIM:242150 |
Spinocerebellar Ataxia With Epilepsy |
|
Cerebral infarct, Progressive neurologic deterioration, Dysmetria, Gait ataxia, Progressive cereb... |
ORPHA:254881 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Cerebral visual impairment, Feeding diffic... |
OMIM:115150 |
Muckle-Wells Syndrome |
|
Maculopapular exanthema, Leukocytosis, Clubbing of fingers, Conjunctivitis, Recurrent aphthous st... |
OMIM:191900 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Dysesthesia, Congestive heart failure... |
ORPHA:85446 |
Crouzon Syndrome |
|
Hearing impairment, Amblyopia, Hypoplasia of the maxilla, Narrow palate, Conjunctivitis, Conducti... |
ORPHA:207 |
Vici Syndrome |
|
Albinism, Recurrent viral infections, Micrognathia, Leukopenia, T lymphocytopenia, Abnormal thymu... |
OMIM:242840 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Single transverse palmar crease, Micrognathia, Feeding difficulties in infancy, High palate, Elev... |
OMIM:614866 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum |
OMIM:618276 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Abnormality of neutrophils, Anorexia, Hepatomegaly, Ataxia, Vertigo, Vasculiti... |
ORPHA:33226 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Hypoplastic toenails, Low anterior hairline, Downturned corners of mouth, High palate, Triphalang... |
OMIM:220500 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Hyp... |
OMIM:602400 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Alopecia, Tented upper lip vermilion, Brachydactyly, Rocker bottom foot, Proxi... |
OMIM:619762 |
Xeroderma Pigmentosum, Complementation Group D |
|
Entropion, Cataract, Ataxia, Keratitis, Sensorineural hearing impairment, Telangiectasia, Choreoa... |
OMIM:278730 |
Oculofaciocardiodental Syndrome |
|
Feeding difficulties in infancy, Microcornea, Oligodontia, Fused teeth, Clinodactyly of the 5th f... |
ORPHA:2712 |
H Syndrome |
|
Microcytic anemia, Corneal arcus, Alopecia, Psoriasiform dermatitis, Cleft upper lip, Recurrent p... |
ORPHA:168569 |
Shigellosis |
|
Anorexia, Intestinal perforation, Sepsis, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic ... |
ORPHA:810 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr... |
ORPHA:2863 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Central heterochromia, Hypogonadotropic hypogonadism, Decreased response to growth horm... |
OMIM:275400 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Subcutaneous hemorrhage, Wrist swelling, Meningitis, Thromboc... |
ORPHA:448237 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Listeriosis |
|
Liver abscess, Tremor, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjun... |
ORPHA:533 |
Mcdonough Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Bilateral single transverse palmar crea... |
ORPHA:2471 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal dysmotility, Low anterior hairline, Gastroesophageal reflux, Finger joint hyperm... |
ORPHA:363705 |
Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Hyperhidrosis, Keratoconjunctivitis sicca, Constipation, Palpitations, Blur... |
OMIM:133020 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... |
OMIM:269400 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Hepatomegaly, Hemolytic anemia, Erythrodontia, Splenomegaly, Jaundice, ... |
OMIM:263700 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Protruding ear, Sparse hair, Dystrophic fin... |
ORPHA:3253 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ... |
ORPHA:189 |
Kawasaki Disease |
|
Abnormality of nail color, Conjunctivitis, Cholecystitis, Meningitis, Abdominal pain, Recurrent p... |
ORPHA:2331 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Micrognathia, High palate, Alopecia, Bronchiectasis, Methicillin-resistant Staphylococcus aureus ... |
OMIM:618282 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Ataxia, Increased circulating ... |
ORPHA:343 |
Neuroferritinopathy |
|
Abnormal dentate nucleus morphology, Caudate atrophy, Abnormal putamen morphology, T2 hypointense... |
ORPHA:157846 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Uveitis, Conjunctivitis, Vomiting, Abdominal pain, Recurrent pharyngitis, Le... |
ORPHA:32960 |
Whipple Disease |
|
Myositis, Myocardial infarction, Anorexia, Abnormal pyramidal sign, Uveitis, Infectious encephali... |
ORPHA:3452 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, Sh... |
ORPHA:39041 |
Roifman Syndrome |
|
Single transverse palmar crease, Downturned corners of mouth, Clinodactyly of the 5th finger, Hep... |
OMIM:616651 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Eczema, Absent eyelashes, Clef... |
ORPHA:2890 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract |
OMIM:278780 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Selective tooth agenesis, Recurrent viral infections, Microcytic anemia, Micrognathia, T lymphocy... |
ORPHA:2959 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Epicanthus, Alopecia, Accessory oral frenulum, Osteolysis involving bones of the uppe... |
ORPHA:88630 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Synophrys, Abnormal pyramidal sign, Atrioventricular block, Coarse hair, Hypertonia,... |
ORPHA:581 |
Hypomelanosis Of Ito |
|
Syndactyly, Epicanthus, Alopecia, Cataract, Thick lower lip vermilion, Irregularly spaced teeth, ... |
OMIM:300337 |
Snijders Blok-Campeau Syndrome |
|
Speech apraxia, Epicanthus, Cerebral visual impairment, Hypermetropia, Feeding difficulties, Asti... |
OMIM:618205 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Alopecia, Hypertensive crisis, Autoimmune thrombocytopenia, Raynaud phenomenon, Thro... |
OMIM:301080 |
Aarskog-Scott Syndrome |
|
Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodac... |
ORPHA:915 |
Cln3 Disease |
|
Blindness, Cataract, Ataxia, Acne, Extrapyramidal muscular rigidity, Amblyopia, Vacuolated lympho... |
ORPHA:228346 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cataract, Sclerocornea, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:139471 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Alopecia, Abnormal dental morphology, Camptodactyly of finger, Short thumb, Pr... |
ORPHA:2251 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Photophobia, Conjunctivitis, Sparse... |
ORPHA:2273 |
Adult Syndrome |
|
Sparse scalp hair, Premature loss of permanent teeth, Absent nipple, Fair hair, Eczema, Sparse ax... |
OMIM:103285 |
Trichorhinophalangeal Syndrome, Type I |
|
Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Protruding ear, Cone-shaped epiphy... |
OMIM:190350 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th... |
ORPHA:81 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Mandibular prognathia, Posteriorly rotated ears, Microcytic anemia, Deep philtrum, Recurrent pneu... |
OMIM:619750 |
Cri-Du-Chat Syndrome |
|
Single transverse palmar crease, Feeding difficulties in infancy, Short metatarsal, Orofacial cle... |
OMIM:123450 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Phot... |
ORPHA:293381 |
Hermansky-Pudlak Syndrome |
|
Anorexia, Photophobia, Neutropenia, Iris hypopigmentation, Abnormal bleeding, Myopia, Menometrorr... |
ORPHA:79430 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
22Q11.2 Deletion Syndrome |
|
Purpura, Impaired T cell function, Abnormal eyelid morphology, Micrognathia, Feeding difficulties... |
ORPHA:567 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... |
ORPHA:97286 |
Fanconi Anemia, Complementation Group S |
|
Epicanthus, Ataxia, Macrodontia, Proximal placement of thumb, Blepharophimosis, Low anterior hair... |
OMIM:617883 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Attached earlobe, Constriction of peripheral visual field, Incoordination, Micrognathia, Diastema... |
ORPHA:436245 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Se... |
OMIM:620317 |
Biotinidase Deficiency |
|
Alopecia, Skin rash, Ataxia, Scotoma, Recurrent viral infections, Sensorineural hearing impairmen... |
ORPHA:79241 |
Erythrokeratodermia Variabilis |
|
Alopecia, Cataract, Corneal opacity, Skin rash, Brachydactyly, Tapered finger, Abnormal hair morp... |
ORPHA:317 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... |
ORPHA:293173 |
Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r... |
OMIM:613451 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Short nose, Anophthalmia |
OMIM:613885 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2889 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Ataxia, Dystonia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, ... |
ORPHA:71277 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PAS-positive s... |
OMIM:619445 |
Adams-Oliver Syndrome |
|
Leukopenia, Hypertonia, Absent fingernail, Sparse hair, Finger syndactyly, Alopecia, Portal hyper... |
ORPHA:974 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Synophrys, Gingiv... |
ORPHA:2025 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Micrognathia, Tremor, Protruding ear, High palate, Short philtrum, Hepatomegaly,... |
OMIM:618342 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis, Alopecia, Alopecia of scalp |
OMIM:260910 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Impaired T cell function, Poor appetite, Tremor, Splenomegaly, Paronychia, ... |
OMIM:201100 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Gingivitis... |
ORPHA:2968 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical... |
OMIM:613573 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Hepatomegaly, Recurrent respiratory infections, Anhidrosis, Conical tooth, Spl... |
OMIM:612132 |
Lymphedema-Distichiasis Syndrome |
|
Ptosis, Recurrent urinary tract infections, Cataract, Recurrent skin infections, Cleft upper lip,... |
ORPHA:33001 |
Inhalational Anthrax |
|
Abnormal sweat gland morphology, Sepsis, Vomiting, Hypotension, Internal hemorrhage |
ORPHA:247257 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, C... |
OMIM:603165 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Chiari type I malformation, Plagiocephaly, Agenesis of corpus callosum, Hypertelorism |
ORPHA:459074 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Villous atrophy, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia,... |
OMIM:304790 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly |
OMIM:610023 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Hamamy Syndrome |
|
Prolonged QRS complex, Microcytic anemia, Micrognathia, High palate, Sparse hair, Clinodactyly of... |
OMIM:611174 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Impaired temperature sensation, Hyperhidrosis, Painless fractures due to injury, Prema... |
ORPHA:642 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Carious teeth, Telangiectasia, Conical incisor, Onycholysis,... |
OMIM:614564 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Abnormality of the anterior commissure, Fusion of the left and right thal... |
OMIM:617542 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Leukocytosis, Aphthous ulcer, Uveitis, Arthritis, Conjunctivitis, Hearing impairment |
OMIM:120100 |
Incontinentia Pigmenti |
|
Abnormal hand morphology, Uveitis, Hyperhidrosis, Orofacial cleft, Abnormal toenail morphology, I... |
ORPHA:464 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia... |
OMIM:606367 |
African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Conjunctivitis, Vomiting, Iritis, Nausea, Hepat... |
ORPHA:3385 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Aredyld Syndrome |
|
Mandibular prognathia, Hepatomegaly, Smooth philtrum, Craniofacial hyperostosis, Low-set, posteri... |
ORPHA:1133 |
Polydactyly, Postaxial, Type A6 |
|
Abnormal sweat gland morphology, Postaxial hand polydactyly, Postaxial foot polydactyly, Broad ph... |
OMIM:615226 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Cerebral atrophy, Abnormal cerebral white matter morphology, Dementia, Focal ... |
ORPHA:79264 |
Hypermobile Ehlers-Danlos Syndrome |
|
Osteoarthritis, Abnormality of the gingiva, Gastrointestinal dysmotility, Anorectal anomaly, Ging... |
ORPHA:285 |
Trichinellosis |
|
Skin rash, Nausea, Trismus, Vertigo, Increased circulating IgE level, Diplopia, Central retinal a... |
ORPHA:863 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Cataract, Rocker bottom foot, Micrognathia, Carious teeth, Cryptorchid... |
OMIM:214150 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, ... |
ORPHA:397596 |
Craniosynostosis 3 |
|
Hallux valgus, Ptosis, Single transverse palmar crease, Dental malocclusion, Low anterior hairlin... |
OMIM:615314 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Hepatomegaly, Ataxia, Abnormality of neutrophils, Abnormal eyelash m... |
ORPHA:381 |
Momo Syndrome |
|
Delayed eruption of teeth, Epicanthus, Blindness, Underfolded helix, Hyperconvex nail, Thick lowe... |
OMIM:157980 |
Temple-Baraitser Syndrome |
|
Tented upper lip vermilion, Hypoplastic thumbnail, Triangular shaped distal phalanx of the thumb,... |
ORPHA:420561 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... |
OMIM:602390 |
Cinca Syndrome |
|
Nausea and vomiting, Hepatomegaly, Blindness, Purpura, Brachydactyly, Abnormality of neutrophils,... |
ORPHA:1451 |
Severe Canavan Disease |
|
Blindness, Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy, Babinski sign, Feeding... |
ORPHA:314911 |
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Epicanthus, Slow-growing hair, Uplifted earlobe, Cerebral visual impairment, Tapered finger, Redu... |
OMIM:615722 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Xerostomia, Photophobia, Gastroesophageal reflux, Nausea, Alopecia, Abdomina... |
ORPHA:99921 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arch... |
OMIM:605282 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Tapered finger, Short finger, Acrocyanosis, Abnormality of the nail |
OMIM:302000 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Cataract, Nyctalopia, Dental malocclusion, Upslanted palpebral fissure, Widely ... |
OMIM:616108 |
Catifa Syndrome |
|
Delayed eruption of teeth, Epicanthus, Amblyopia, Cleft lip, Cleft palate, Developmental cataract... |
OMIM:618761 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, Epicanthus, Tapered finger, Long fingers, Dental malocclusion, Gait ataxia... |
OMIM:618292 |
Scrub Typhus |
|
Abnormal bleeding, Anterior uveitis, Nausea and vomiting, Skin rash, Abdominal pain, Tremor, Myoc... |
ORPHA:83317 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Sepsis, Tubulointerstitial nephritis, Iron deficiency anemia, Colit... |
ORPHA:37042 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia |
ORPHA:26137 |
Usher Syndrome Type 1 |
|
Cataract, Ataxia, Abnormal dental enamel morphology, Scotoma, Visual loss, Sensorineural hearing ... |
ORPHA:231169 |
Gaba-Transaminase Deficiency |
|
Lethargy, Retrognathia, Downslanted palpebral fissures, Feeding difficulties |
OMIM:613163 |
Monosomy 18P |
|
Epicanthus, Alopecia, Generalized dystonia, Brachydactyly, Micrognathia, Carious teeth, Cleft pal... |
ORPHA:1598 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Epicanthus, Posteriorly rotated ears, Spasticity, High palate, Low-set ears, Conjunctival hyperemia |
OMIM:619548 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Bilateral cryptorchidism, High, n... |
OMIM:180849 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume, Abnormal basal ganglia morphology |
OMIM:618646 |
Ogden Syndrome |
|
Microretrognathia, Everted upper lip vermilion, Torticollis, Broad hallux, Cryptorchidism, High, ... |
ORPHA:276432 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Brachydactyly, Hypergonadotropic hypogonadism, Split hand, Photophob... |
ORPHA:2850 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Decreased re... |
OMIM:307200 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nausea, ... |
ORPHA:85450 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl... |
ORPHA:424016 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi... |
OMIM:166750 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal fingernail morphology, Abnormalit... |
ORPHA:2228 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Blindness, Cataract, Parkinsonism, Vacuolated lymphocytes, Reduced visual acuity, Concentric hype... |
OMIM:204200 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Microcephaly, Hypoplasia of the p... |
ORPHA:370959 |
Oculocerebrocutaneous Syndrome |
|
Facial cleft, Orofacial cleft, Aplasia/Hypoplasia of the corpus callosum, Wide mouth, Cerebellar ... |
ORPHA:1647 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... |
ORPHA:83461 |
Short Syndrome |
|
Alopecia, Telecanthus, Corneal opacity, Abnormal dental enamel morphology, Poor appetite, Abnorma... |
ORPHA:3163 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Clonus, Micrognathia, Feeding diffic... |
ORPHA:534 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Oral ulcer, Leukopenia, Vomiting, Nephritis, Alopecia, Abdominal pain, Raynaud phenomen... |
ORPHA:93552 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Hypohidrosis With Abnormal Palmar Dermal Ridges |
|
Abnormal palmar dermal ridges, Decreased number of sweat glands, Hypohidrosis |
OMIM:241120 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Bipolar affective disorder, Ataxia, Decreased response to growth hormone stimulation te... |
OMIM:601853 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Hepatomegaly, Dystonia, Anorexia, Abdominal pain, Splenomegaly, Thrombocytop... |
ORPHA:79312 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M... |
ORPHA:79456 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abnormal large intestine morpholo... |
ORPHA:2198 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Thin upper lip vermilion, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leu... |
OMIM:620233 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Thin upper lip vermilion, Myopia, Brachydactyly, Posteriorly rotated ears, Corneal dystrophy, Nyc... |
OMIM:617763 |
Pancreas, Annular |
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High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
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