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:
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Eye Abnormalities (D005124)
..Starting node
..expand
Microphthalmos (D008850)

       Child 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)



 Sister Nodes: 
..expandAblepharon macrostomia syndrome (C535557)
..expandAniridia (D015783) Child10
..expandAnkyloblepharon filiforme adnatum cleft palate (C536373)
..expandAnophthalmos (D000853) Child8
..expandAnterior segment mesenchymal dysgenesis (C537775)
..expandAsymmetric Short Stature Syndrome (C566248)
..expandAxenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandAxenfeld-Rieger syndrome (C535679) Child3
..expandBlepharophimosis (D016569) Child17
..expandBlue diaper syndrome (C536239)
..expandBrachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893)
..expandChemke Oliver Mallek syndrome (C535922)
..expandChromosome 6pter-P24 Deletion Syndrome (C567239)
..expandCODAS syndrome (C536434)
..expandCole Carpenter syndrome (C535963)
..expandColoboma (D003103) Child43
..expandCraniosynostosis with Ocular Abnormalities and Hallucal Defects (C564263)
..expandCryptophthalmos, Unilateral or Bilateral, Isolated (C565138)
..expandDwarfism stiff joint ocular abnormalities (C535724)
..expandEctopia Lentis (D004479) Child13
..expandFACES syndrome (C536384)
..expandFoveal Hypoplasia and Anterior Segment Dysgenesis (C563774)
..expandFraser Syndrome (D058497)
..expandFronto-facio-nasal dysplasia (C538063)
..expandFrontoocular Syndrome (C565340)
..expandGoniodysgenesis-Mental Retardation-Short Stature Syndrome (C564214)
..expandHay-Wells syndrome (C535847)
..expandHydrophthalmos (D006871)
..expandIridogoniodysgenesis and skeletal anomalies (C535534)
..expandIridogoniodysgenesis type1 (C535535)
..expandIridogoniodysgenesis, dominant type (C535536)
..expandJejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
..expandJoubert syndrome 1 (C536293)
..expandJoubert syndrome 2 (C536294)
..expandJoubert Syndrome 9 (C567364)
..expandKapur Toriello syndrome (C537008)
..expandKaufman oculocerebrofacial syndrome (C537013)
..expandMacrophthalmia, Colobomatous, with Microcornea (C566533)
..expandMaxillofacial Dysostosis (C563599)
..expandMesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities (C565405)
..expandMicrocornea, glaucoma, and absent frontal sinuses (C537552)
..expandMicrophthalmos (D008850) Child57
..expandMOMES Syndrome (C564660)
..expandNephrotic syndrome ocular anomalies (C536403)
..expandNephrotic Syndrome, Congenital, with or without Ocular Abnormalities (C563805)
..expandOculoauricular Syndrome (C567416)
..expandOculoauriculofrontonasal syndrome (C537865)
..expandOculocerebrocutaneous syndrome (C538088)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculomaxillofacial dysostosis (C537736)
..expandOculopalatocerebral Syndrome (C564935)
..expandOculopalatoskeletal syndrome (C537738)
..expandOculorenocerebellar syndrome (C537739)
..expandPena Shokeir syndrome Type 2 (C536646)
..expandPersistent Hyperplastic Primary Vitreous (D054514)
..expandPersistent Hyperplastic Primary Vitreous, Autosomal Recessive (C566966)
..expandPeters anomaly (C537884)
..expandPHACE association (C537892)
..expandPierson syndrome (C537185)
..expandPopliteal Pterygium Syndrome (C562509)
..expandPopliteal Pterygium Syndrome, Lethal Type (C564874)
..expandPrepapillary Vascular Loops (C563287)
..expandPupil, Egg-Shaped (C566731)
..expandPupillary Membrane, Persistence Of (C562700)
..expandRetinal Dysplasia (D015792) Child2
..expandRieger syndrome 2 (C535680)
..expandRozin Hertz Goodman syndrome (C535876)
..expandTorsion dystonia with onset in infancy (C536969)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7249
Name:Microphthalmos
Definition:Congenital or developmental anomaly in which the eyeballs are abnormally small.
Alternative IDs:
ParentIDs:MESH:D005124
TreeNumbers:C11.250.566 |C16.131.384.666
Synonyms:Microphthalmia
Slim Mappings:Congenital abnormality|Eye disease
Reference: MedGen: D008850
MeSH: D008850
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants