Disease Browser
|
Parent Node:
Abnormalities, Multiple (D000015) | Parent Node:
Cleft Palate (D002972) | Parent Node:
Fetal Macrosomia (D005320) | Parent Node:
Microphthalmos (D008850) | ..Starting node .. Macrosomia with lethal microphthalmia (C537830)
| Child Nodes:
|
Sister Nodes: | .. Adams Nance syndrome (C538224)
| .. Anophthalmia with pulmonary hypoplasia (C537768)
| .. Arhinia, choanal atresia, and microphthalmia (C537429)
| .. Aughton syndrome (C538269)
| .. Behrens Baumann Dust syndrome (C537670)
| .. Cataract, congenital, with microcornea or slight microphthalmia (C535338)
| .. CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
| .. Coloboma, cleft lip-palate and mental retardation syndrome (C535971)
| .. COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
| .. Duker Weiss Siber syndrome (C535719)
| .. Ghose Sachdev Kumar syndrome (C537803)
| .. GOMBO syndrome (C537284)
| .. HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
| .. Hittner Hirsch Kreh syndrome (C538323)
| .. Holoprosencephaly 10 (C567278)
| .. Kaplowitz Bodurtha syndrome (C536893)
| .. Macrosomia with lethal microphthalmia (C537830)
| .. Microcephaly microphthalmos blindness (C537541)
| .. Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
| .. Microcornea corectopia macular hypoplasia (C537551)
| .. MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
| .. Microgastria limb reduction defect (C537554)
| .. Microphthalmia and mental deficiency (C537462)
| .. Microphthalmia associated with colobomatous cyst (C537463)
| .. Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370)
| .. Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies (C566884)
| .. Microphthalmia, Cataracts, and Iris Abnormalities (C566448)
| .. Microphthalmia, Isolated 1 (C565377)
| .. Microphthalmia, Isolated 2 (C566446)
| .. Microphthalmia, Isolated 3 (C567025)
| .. Microphthalmia, Isolated 4 (C567757)
| .. MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
| .. MICROPHTHALMIA, ISOLATED 6 (OMIM:613517)
| .. MICROPHTHALMIA, ISOLATED 7 (OMIM:613704)
| .. MICROPHTHALMIA, ISOLATED 8 (OMIM:615113)
| .. Microphthalmia, Isolated, with Cataract 1 (C563582)
| .. Microphthalmia, Isolated, with Cataract 2 (C565876)
| .. Microphthalmia, Isolated, with Cataract 3 (C564452)
| .. Microphthalmia, Isolated, with Cataract 4 (C566480)
| .. Microphthalmia, Isolated, with Coloboma 1 (C564531)
| .. MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 (OMIM:616428)
| .. Microphthalmia, Isolated, with Coloboma 2 (C565300)
| .. Microphthalmia, Isolated, with Coloboma 3 (C566447)
| .. Microphthalmia, Isolated, with Coloboma 4 (C565378)
| .. Microphthalmia, Isolated, with Coloboma 5 (C566899)
| .. MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
| .. MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 (OMIM:614497)
| .. MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
| .. Microphthalmia, Isolated, With Corectopia (C563581)
| .. Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024)
| .. Microphthalmia, syndromic 1 (C537464)
| .. Microphthalmia, Syndromic 10 (C566985)
| .. MICROPHTHALMIA, SYNDROMIC 11 (OMIM:614402)
| .. MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
| .. MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
| .. Microphthalmia, syndromic 2 (C537465)
| .. Microphthalmia, Syndromic 3 (C565948)
| .. Microphthalmia, Syndromic 4 (C564457)
| .. Microphthalmia, Syndromic 5 (C566441)
| .. Microphthalmia, Syndromic 6 (C566440)
| .. Microphthalmia, syndromic 7 (C537466)
| .. MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
| .. Nanophthalmos 1 (C563983)
| .. Nanophthalmos 2 (C563700)
| .. Nanophthalmos 3 (C567498)
| .. NANOPHTHALMOS 4 (OMIM:615972)
| .. Oculodentoosseous dysplasia recessive (C537733)
| .. Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria (C566880)
| .. Thomas 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 : 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 | |
|