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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: Intellectual Disability (D008607)
Parent Node: Nails, Malformed (D009264)
Parent Node: Neutropenia (D009503)
..Starting node ..Onychotrichodysplasia and neutropenia (C537752)
Child Nodes:
Sister Nodes:
..Cyclic neutropenia (C536227)
..Febrile Neutropenia (D064147) 1
..Lazy Leukocyte Syndrome (C562721)
..Lichtenstein syndrome (C535894)
..Neutropenia, Lethal Congenital, with Eosinophilia (C564943)
..Neutropenia, Nonimmune Chronic Idiopathic, Adult (C564320)
..Neutropenia, severe chronic (C535815)
..Neutropenia, Severe Congenital, Autosomal Dominant 1 (C565969)
..Neutropenia, Severe Congenital, Autosomal Dominant 2 (C567748)
..Neutropenia, Severe Congenital, Autosomal Recessive 3 (C537592)
..Neutropenia, Severe Congenital, Autosomal Recessive 4 (C567260)
..Neutropenia, Severe Congenital, X-Linked (C564539)
..Onychotrichodysplasia and neutropenia (C537752)
..Poikiloderma with Neutropenia (C565820)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8245

Name:

Onychotrichodysplasia and neutropenia

Definition:

Alternative IDs:

ParentIDs:

MESH:D008607|MESH:D009264|MESH:D009503

TreeNumbers:

C10.597.606.643/C537752 |C15.378.553.546.184.564/C537752 |C23.300.820/C537752 |C23.888.592.604.646/C537752 |F03.550.600/C537752

Synonyms:

Onychotrichodysplasia, chronic neutropenia and mental retardation syndrome

Slim Mappings:

Blood disease|Mental disorder|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms

Reference:

MedGen: C537752
MeSH: C537752
OMIM: 258360;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0007717	Chronic irritative conjunctivitis
3	HP:0001598	Concave nail
4	HP:0007665	Curly eyelashes
5	HP:0002212	Curly hair
6	HP:0001804	Hypoplastic fingernail
7	HP:0001256	Intellectual disability, mild
8	HP:0100827	Lymphocytosis
9	HP:0001875	Neutropenia
10	HP:0002719	Recurrent infections
11	HP:0010764	Short eyelashes
12	HP:0002225	Sparse pubic hair
13	HP:0009886	Trichorrhexis nodosa

Disease Causing ClinVar Variants