MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandCleft Palate (D002972)
Parent Node:
expandFetal Macrosomia (D005320)
Parent Node:
expandMicrophthalmos (D008850)
..Starting node
..expandMacrosomia with lethal microphthalmia (C537830)

       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)
..expandCHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
..expandColoboma, cleft lip-palate and mental retardation syndrome (C535971)
..expandCOLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
..expandDuker Weiss Siber syndrome (C535719)
..expandGhose Sachdev Kumar syndrome (C537803)
..expandGOMBO syndrome (C537284)
..expandHEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
..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)
..expandMICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
..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 8 (OMIM:615113)
..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 10 (OMIM:616428)
..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 COLOBOMA 7 (OMIM:614497)
..expandMICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
..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 11 (OMIM:614402)
..expandMICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
..expandMICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
..expandMicrophthalmia, syndromic 2 (C537465)
..expandMicrophthalmia, Syndromic 3 (C565948)
..expandMicrophthalmia, Syndromic 4 (C564457)
..expandMicrophthalmia, Syndromic 5 (C566441)
..expandMicrophthalmia, Syndromic 6 (C566440)
..expandMicrophthalmia, syndromic 7 (C537466)
..expandMICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
..expandNanophthalmos 1 (C563983)
..expandNanophthalmos 2 (C563700)
..expandNanophthalmos 3 (C567498)
..expandNANOPHTHALMOS 4 (OMIM:615972)
..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,ClinVar, CTD
Term ID:7306
Name:Macrosomia with lethal microphthalmia
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D002972|MESH:D005320|MESH:D008850
TreeNumbers:C05.500.460.185/C537830 |C05.660.207.540.460.185/C537830 |C07.320.440.185/C537830 |C07.465.525.185/C537830 |C07.650.500.460.185/C537830 |C07.650.525.185/C537830 |C11.250.566/C537830 |C13.703.170.500/C537830 |C13.703.277.570/C537830 |C13.703.726.570/C537830 |C16.13
Synonyms:Macrosomia microphthalmia cleft palate |Macrosomia with Microphthalmia, Lethal |Teebi Al-Saleh Hassoon syndrome
Slim Mappings:Congenital abnormality|Endocrine system disease|Eye disease|Fetal disease|Mouth disease|Musculoskeletal disease|Pregnancy complication|Signs and symptoms
Reference: MedGen: C537830
MeSH: C537830
OMIM:
MSeqDR LSDB:  
Genes: FOXRED1; NDUFA1; NDUFA11; NDUFAF1; NDUFAF2; NDUFAF3; NDUFAF4; NDUFAF5; NDUFB3; NDUFB9; NDUFS1; NDUFS2; NDUFS3; NDUFS4; NDUFS6; NDUFV1; NDUFV2; NUBPL;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal