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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Cryptorchidism (D003456)
Parent Node: Facies (D019066)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Intellectual Disability (D008607)
Parent Node: Kyphosis (D007738)
..Starting node ..McDonough syndrome (C538158)
Child Nodes:
Sister Nodes:
..Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..Cervical Hypertrichosis with Underlying Kyphoscoliosis (C566142)
..Coffin syndrome 1 (C536435)
..Daish Hardman Lamont syndrome (C535770)
..Facial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
..Kahrizi Syndrome (C567196)
..Kyphoscoliosis 1 (C565711)
..McDonough syndrome (C538158)
..Parastremmatic dwarfism (C537172)
..Scheuermann Disease (D012544)
..Vertebral Hypoplasia With Lumbar Kyphosis (C566002)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6852

Name:

McDonough syndrome

Definition:

Alternative IDs:

ParentIDs:

TreeNumbers:

C05.116.900.800.500/C538158 |C10.597.606.643/C538158 |C12.294.829.258/C538158 |C12.706.258/C538158 |C14.240.400/C538158 |C14.280.400/C538158 |C16.131.077/C538158 |C16.131.240.400/C538158 |C16.131.939.258/C538158 |C19.391.829.258/C538158 |C23.550.291.812/C538158 |C2

Synonyms:

Mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect

Slim Mappings:

Reference:

MedGen: C538158
MeSH: C538158
OMIM: 248950;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001999	Abnormal facial shape
3	HP:0001650	Aortic valve stenosis
4	HP:0001631	Atrial septal defect
5	HP:0030084	Clinodactyly
6	HP:0000028	Cryptorchidism
7	HP:0000689	Dental malocclusion
8	HP:0001540	Diastasis recti
9	HP:0000221	Furrowed tongue
10	HP:0000316	Hypertelorism
11	HP:0001800	Hypoplastic toenails
12	HP:0001249	Intellectual disability
13	HP:0002751	Kyphoscoliosis
14	HP:0000303	Mandibular prognathia
15	HP:0000347	Micrognathia
16	HP:0000768	Pectus carinatum
17	HP:0000767	Pectus excavatum
18	HP:0000448	Prominent nose
19	HP:0000508	Ptosis
20	HP:0001642	Pulmonic stenosis
21	HP:0009466	Radial deviation of finger
22	HP:0000322	Short philtrum
23	HP:0004322	Short stature
24	HP:0000954	Single transverse palmar crease
25	HP:0008070	Sparse hair
26	HP:0000486	Strabismus
27	HP:0000664	Synophrys
28	HP:0000582	Upslanted palpebral fissure
29	HP:0001629	Ventricular septal defect

Disease Causing ClinVar Variants