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:
expandChoanal Atresia (D002754)
Parent Node:
expandMicrophthalmos (D008850)
..Starting node
..expandArhinia, choanal atresia, and microphthalmia (C537429)

       Child Nodes:



 Sister Nodes: 
..expandAdams Nance syndrome (C538224)
..expandAnophthalmia with pulmonary hypoplasia (C537768)
..expandArhinia, choanal atresia, and microphthalmia (C537429)
..expandAughton syndrome (C538269)
..expandBehrens Baumann Dust syndrome (C537670)
..expandCataract, congenital, with microcornea or slight microphthalmia (C535338)
..expandColoboma, cleft lip/palate and mental retardation syndrome (C535971)
..expandDuker Weiss Siber syndrome (C535719)
..expandFRONTONASAL DYSPLASIA 3 (OMIM:613456)
..expandGhose Sachdev Kumar syndrome (C537803)
..expandGOMBO syndrome (C537284)
..expandHittner Hirsch Kreh syndrome (C538323)
..expandHoloprosencephaly 10 (C567278)
..expandKaplowitz Bodurtha syndrome (C536893)
..expandMacrosomia with lethal microphthalmia (C537830)
..expandMicrocephaly microphthalmos blindness (C537541)
..expandMicrocephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
..expandMicrocornea corectopia macular hypoplasia (C537551)
..expandMicrogastria limb reduction defect (C537554)
..expandMicrophthalmia and mental deficiency (C537462)
..expandMicrophthalmia associated with colobomatous cyst (C537463)
..expandMicrophthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370)
..expandMicrophthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies (C566884)
..expandMicrophthalmia, Cataracts, and Iris Abnormalities (C566448)
..expandMicrophthalmia, Isolated 1 (C565377)
..expandMicrophthalmia, Isolated 2 (C566446)
..expandMicrophthalmia, Isolated 3 (C567025)
..expandMicrophthalmia, Isolated 4 (C567757)
..expandMICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..expandMICROPHTHALMIA, ISOLATED 6 (OMIM:613517)
..expandMICROPHTHALMIA, ISOLATED 7 (OMIM:613704)
..expandMicrophthalmia, Isolated, with Cataract 1 (C563582)
..expandMicrophthalmia, Isolated, with Cataract 2 (C565876)
..expandMicrophthalmia, Isolated, with Cataract 3 (C564452)
..expandMicrophthalmia, Isolated, with Cataract 4 (C566480)
..expandMicrophthalmia, Isolated, with Coloboma 1 (C564531)
..expandMicrophthalmia, Isolated, with Coloboma 2 (C565300)
..expandMicrophthalmia, Isolated, with Coloboma 3 (C566447)
..expandMicrophthalmia, Isolated, with Coloboma 4 (C565378)
..expandMicrophthalmia, Isolated, with Coloboma 5 (C566899)
..expandMICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
..expandMicrophthalmia, Isolated, With Corectopia (C563581)
..expandMicrophthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024)
..expandMicrophthalmia, syndromic 1 (C537464)
..expandMicrophthalmia, Syndromic 10 (C566985)
..expandMicrophthalmia, syndromic 2 (C537465)
..expandMicrophthalmia, Syndromic 3 (C565948)
..expandMicrophthalmia, Syndromic 4 (C564457)
..expandMicrophthalmia, Syndromic 5 (C566441)
..expandMicrophthalmia, Syndromic 6 (C566440)
..expandMicrophthalmia, syndromic 7 (C537466)
..expandNanophthalmos 1 (C563983)
..expandNanophthalmos 2 (C563700)
..expandNanophthalmos 3 (C567498)
..expandOculodentoosseous dysplasia recessive (C537733)
..expandTachycardia, Hypertension, Microphthalmia, And Hyperglycinuria (C566880)
..expandThomas Jewett Raines syndrome (C536513)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:849
Name:Arhinia, choanal atresia, and microphthalmia
Definition:
Alternative IDs:
ParentIDs:MESH:D002754|MESH:D008850
TreeNumbers:C08.460.171/C537429 |C08.695.271/C537429 |C09.603.171/C537429 |C11.250.566/C537429 |C16.131.384.666/C537429 |C16.131.740.271/C537429
Synonyms:Bosma arhinia microphthalmia syndrome
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Eye disease|Respiratory tract disease
Reference: MedGen: C537429
MeSH: C537429
OMIM: 603457;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0006349Agenesis of permanent teethHP:0040283
3 HP:0000458Anosmia
4 HP:0009927Aplasia of the nose
5 HP:0000518CataractHP:0040283
6 HP:0000453Choanal atresia
7 HP:0410030Cleft lipHP:0040283
8 HP:0000175Cleft palate
9 HP:0000589Coloboma
10 HP:0007957Corneal opacityHP:0040283
11 HP:0000028Cryptorchidism
12 HP:0000689Dental malocclusionHP:0040283
13 HP:0000365Hearing impairmentHP:0040283
14 HP:0000218High palate
15 HP:0000316Hypertelorism
16 HP:0000135Hypogonadism
17 HP:0000685Hypoplasia of teethHP:0040283
18 HP:0000059Hypoplastic labia majoraHP:0040283
19 HP:0004409Hyposmia
20 HP:0000047HypospadiasHP:0040283
21 HP:0000023Inguinal herniaHP:0040283
22 HP:0000054Micropenis
23 HP:0000568Microphthalmia
24 HP:0011800Midface retrusion
25 HP:0000786Primary amenorrhea
26 HP:0000664SynophrysHP:0040283
Disease Causing ClinVar Variants