Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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Hypertelorism (D006972)
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Syndactyly (D013576)
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Urogenital Abnormalities (D014564)
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Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)

       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:11116
Name:Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations
Definition:
Alternative IDs:OMIM:300707
ParentIDs:MESH:D006972|MESH:D013576|MESH:D014564
TreeNumbers:C05.116.099.370.231.480/C567475 |C05.116.099.370.894.819/C567475 |C05.660.207.231.480/C567475 |C05.660.585.800/C567475 |C05.660.906.819/C567475 |C12.706/C567475 |C13.351.875/C567475 |C16.131.621.207.231.480/C567475 |C16.131.621.585.800/C567475 |C16.131.621.906.81
Synonyms:STAR |STAR Syndrome |Syndactyly with Renal and Anogenital Malformations
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C567475
MeSH: C567475
OMIM: 300707;

Genes: FAM58A;
Phenotypes
1 HP:0001423X-linked dominant inheritance
2 HP:0000377Abnormality of the pinnaHP:0040283
3 HP:0002025Anal stenosis
4 HP:0000813Bicornuate uterus
5 HP:0001647Bicuspid aortic valve
6 HP:0000455Broad nasal tip
7 HP:0004209Clinodactyly of the 5th finger
8 HP:0008665Clitoral hypertrophy
9 HP:0001363CraniosynostosisHP:0040283
10 HP:0001511Intrauterine growth retardation
11 HP:0000066Labial hypoplasia
12 HP:0000460Narrow nose
13 HP:0000125Pelvic kidney
14 HP:0004969Peripheral pulmonary artery stenosis
15 HP:0000143Rectovaginal fistula
16 HP:0004322Short stature
17 HP:0001518Small for gestational age
18 HP:0000506TelecanthusHP:0040283
19 HP:0000219Thin upper lip vermilion
20 HP:0001770Toe syndactyly
21 HP:0000076Vesicoureteral reflux
Disease Causing ClinVar Variants