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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Facies (D019066)
Parent Node: Muscular Atrophy (D009133)
..Starting node ..Facial Dysmorphism with Multiple Malformations (C565579)
Child Nodes:
Sister Nodes:
..Allan-Herndon-Dudley syndrome (C537047)
..Arnold Stickler Bourne syndrome (C537431)
..Facial Dysmorphism with Multiple Malformations (C565579)
..Furukawa Takagi Nakao syndrome (C538193)
..Lethal Congenital Contractural Syndrome 3 (C566961)
..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
..Miyoshi Muscular Dystrophy 2 (C567646)
..Miyoshi Muscular Dystrophy 3 (C567645)
..Miyoshi myopathy (C537480)
..Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..Muscular Atrophy, Malignant Neurogenic (C563559)
..Nathalie syndrome (C538342)
..Primrose syndrome (C536420)
..Sarcopenia (D055948)
..Thakker Donnai syndrome (C536503)
..Wieacker syndrome (C536703)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4072

Name:

Facial Dysmorphism with Multiple Malformations

Definition:

Alternative IDs:

ParentIDs:

MESH:D000015|MESH:D009133|MESH:D019066

TreeNumbers:

C10.597.613.612/C565579 |C16.131.077/C565579 |C23.300.070.500/C565579 |C23.550.291.812/C565579 |C23.888.592.608.612/C565579

Synonyms:

Slim Mappings:

Congenital abnormality|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Signs and symptoms

Reference:

MedGen: C565579
MeSH: C565579
OMIM: 227255;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001999	Abnormal facial shape
3	HP:0001194	Abnormalities of placenta or umbilical cord
4	HP:0001274	Agenesis of corpus callosum
5	HP:0002023	Anal atresia
6	HP:0000414	Bulbous nose
7	HP:0000494	Downslanted palpebral fissures
8	HP:0002714	Downturned corners of mouth
9	HP:0001290	Generalized hypotonia
10	HP:0002937	Hemivertebrae
11	HP:0000238	Hydrocephalus
12	HP:0000126	Hydronephrosis
13	HP:0000316	Hypertelorism
14	HP:0001252	Hypotonia
15	HP:0001511	Intrauterine growth retardation
16	HP:0400004	Long ear
17	HP:0000637	Long palpebral fissure
18	HP:0002162	Low posterior hairline
19	HP:0000160	Narrow mouth
20	HP:0000358	Posteriorly rotated ears
21	HP:0000143	Rectovaginal fistula
22	HP:0003196	Short nose
23	HP:0001636	Tetralogy of Fallot
24	HP:0001669	Transposition of the great arteries
25	HP:0001629	Ventricular septal defect
26	HP:0000465	Webbed neck
27	HP:0000431	Wide nasal bridge

Disease Causing ClinVar Variants