Disease browser and phenotype portal

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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: Facies (D019066)
Parent Node: Megalencephaly (D058627)
Parent Node: Paraplegia (D010264)
..Starting node ..Fryns Macrocephaly (C563963)
Child Nodes:
Sister Nodes:
..Brown-Sequard Syndrome (D018437)
..Fryns Macrocephaly (C563963)
..Mental Retardation with Spastic Paraplegia (C564099)
..Optic Atrophy Spastic Paraplegia Syndrome (C564084)
..Spastic Paraplegia 24, Autosomal Recessive (C564375)
..Spastic Paraplegia 28, Autosomal Recessive (C563732)
..Spastic Paraplegia 30, Autosomal Recessive (C563677)
..Spastic Paraplegia Type 11 (C580453)
..Spastic Paraplegia Type 3a (C580455)
..Spastic Paraplegia Type 4 (C580456)
..Spastic Paraplegia Type 7 (C580457)
..Spastic Paraplegia Type 8 (C580458)
..Spastic Paraplegia, Ataxia, And Mental Retardation (C564378)
..Spastic Paraplegia, Optic Atrophy, and Neuropathy (C563702)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4449

Name:

Fryns Macrocephaly

Definition:

Alternative IDs:

ParentIDs:

MESH:D010264|MESH:D019066|MESH:D058627

TreeNumbers:

C05.660.207.536/C563963 |C10.500.507.400.249/C563963 |C10.597.622.669/C563963 |C16.131.621.207.532/C563963 |C16.131.666.507.400.249/C563963 |C23.550.291.812/C563963 |C23.888.592.636.637/C563963

Synonyms:

Macrocephaly with Spastic Paraplegia and Distinctive Craniofacial Appearance

Slim Mappings:

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

Reference:

MedGen: C563963
MeSH: C563963
OMIM: 600302;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000478	Abnormality of the eye
3	HP:0000337	Broad forehead
4	HP:0002059	Cerebral atrophy
5	HP:0000232	Everted lower lip vermilion
6	HP:0001256	Intellectual disability, mild
7	HP:0006380	Knee flexion contracture
8	HP:0000675	Macrodontia of permanent maxillary central incisor
9	HP:0005490	Postnatal macrocephaly
10	HP:0001250	Seizure
11	HP:0000470	Short neck
12	HP:0000322	Short philtrum
13	HP:0000188	Short upper lip
14	HP:0001258	Spastic paraplegia
15	HP:0000219	Thin upper lip vermilion
16	HP:0001956	Truncal obesity
17	HP:0006610	Wide intermamillary distance
18	HP:0000154	Wide mouth

Disease Causing ClinVar Variants