Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandLimb Deformities, Congenital (D017880)
Parent Node:
expandSpinal Dysraphism (D016135)
Parent Node:
expandUrogenital Abnormalities (D014564)
..Starting node
..expandSplit-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)

       Child Nodes:



 Sister Nodes: 
..expandAllanson Pantzar McLeod syndrome (C537048) Child1
..expandANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
..expandAtrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects (C563994)
..expandB-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..expandBEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..expandBladder Exstrophy (D001746) Child1
..expandCalabro syndrome (C537960)
..expandCleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..expandCorpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..expandCryptorchidism (D003456) Child12
..expandDisorders of Sex Development (D012734) Child107
..expandDK Phocomelia Syndrome (C565618)
..expandDuker Weiss Siber syndrome (C535719)
..expandEpispadias (D004842) Child1
..expandGenitopatellar Syndrome (C565255)
..expandGenitourinary Tract Anomalies (C564424)
..expandHand foot uterus syndrome (C535627)
..expandHemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..expandHypospadias (D007021) Child17
..expandIntrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..expandLissencephaly, X-Linked, 2 (C564563)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrophthalmia, Syndromic 6 (C566440)
..expandMulticystic Dysplastic Kidney (D021782) Child2
..expandMyotubular Myopathy with Abnormal Genital Development (C564561)
..expandNephritis, Hereditary (D009394) Child11
..expandNephrosis deafness urinary tract digital malformation (C536402)
..expandNoduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..expandOmphalocele exstrophy imperforate anus (C537748)
..expandPiepkorn Karp Hickok syndrome (C535774)
..expandPopliteal Pterygium Syndrome (C562509)
..expandProud Syndrome (C563110)
..expandPyelectasis (D058536)
..expandRenal Adysplasia (C563261)
..expandRenal dysplasia - limb defects syndrome (C537754)
..expandRenal, Genital, and Middle Ear Anomalies (C564849)
..expandRetrocaval Ureter (D064749)
..expandRobinow Syndrome, Autosomal Dominant (C562492)
..expandRosselli-Gulienetti Syndrome (C563117)
..expandSplit-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..expandSpondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
..expandToe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..expandUreter, Bifid Or Double (C566012)
..expandUrinary Fistula (D014548) Child2
..expandUterine Anomalies (C562565)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10560
Name:Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D014564|MESH:D016135|MESH:D017880
TreeNumbers:C05.660.585/C566662 |C10.500.680.800/C566662 |C12.706/C566662 |C13.351.875/C566662 |C16.131.077/C566662 |C16.131.621.585/C566662 |C16.131.666.680.800/C566662 |C16.131.939/C566662
Synonyms:
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C566662
MeSH: C566662
OMIM: 183802;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000775Abnormality of the diaphragm
3 HP:0010554Cutaneous finger syndactyly
4 HP:0000238Hydrocephalus
5 HP:0000126Hydronephrosis
6 HP:0002475Myelomeningocele
7 HP:0003298Spina bifida occulta
8 HP:0001839Split foot
9 HP:0001171Split hand
10 HP:0002944Thoracolumbar scoliosis
11 HP:0005999Ureteral atresia
Disease Causing ClinVar Variants