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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: Bone Diseases, Developmental (D001848)
Parent Node: Developmental Disabilities (D002658)
Parent Node: Facies (D019066)
Parent Node: Immunologic Deficiency Syndromes (D007153)
Parent Node: Optic Nerve Diseases (D009901)
..Starting node ..Roifman-Chitayat Syndrome (C567641)
Child Nodes:
Sister Nodes:
..Low Tension Glaucoma (D057066)
..Optic Atrophy (D009896) 50
..Optic Disk Drusen (D015594) 2
..Optic Nerve Aplasia, Bilateral (C563493)
..Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System (C565949)
..Optic Nerve Hypoplasia, Bilateral (C563492)
..Optic Nerve Injuries (D020221)
..Optic Nerve Neoplasms (D019574) 1
..Optic Neuritis (D009902) 1
..Optic Neuropathy, Ischemic (D018917) 1
..Papilledema (D010211) 1
..Pseudopapilledema (C562401)
..Roifman-Chitayat Syndrome (C567641)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9894

Name:

Roifman-Chitayat Syndrome

Definition:

Alternative IDs:

OMIM:613328

ParentIDs:

MESH:D001848|MESH:D002658|MESH:D007153|MESH:D009901|MESH:D019066

TreeNumbers:

C05.116.099/C567641 |C10.292.700/C567641 |C11.640/C567641 |C20.673/C567641 |C23.550.291.812/C567641 |F03.550.362/C567641

Synonyms:

Combined Immunodeficiency, Facial Dysmorphism, Optic Nerve Atrophy, Skeletal Anomalies, And Developmental Delay

Slim Mappings:

Reference:

MedGen: C567641
MeSH: C567641
OMIM: 613328;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001999	Abnormal facial shape
3	HP:0001369	Arthritis
4	HP:0010579	Cone-shaped epiphysis
5	HP:0005280	Depressed nasal bridge
6	HP:0000086	Ectopic kidney
7	HP:0002123	Generalized myoclonic seizure
8	HP:0001263	Global developmental delay
9	HP:0000316	Hypertelorism
10	HP:0007678	Lacrimal duct stenosis
11	HP:0000648	Optic atrophy
12	HP:0000938	Osteopenia
13	HP:0002090	Pneumonia
14	HP:0010049	Short metacarpal
15	HP:0010743	Short metatarsal
16	HP:0000470	Short neck
17	HP:0010282	Thin lower lip vermilion
18	HP:0001537	Umbilical hernia
19	HP:0009891	Underdeveloped supraorbital ridges
20	HP:0002119	Ventriculomegaly
21	HP:0000431	Wide nasal bridge

Disease Causing ClinVar Variants