Disease browser and phenotype portal

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MSeqDR-LSDB
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Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Osteomyelitis (D010019)
Parent Node: Periostitis (D010522)
Parent Node: Skin Diseases (D012871)
..Starting node ..OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS (OMIM:612852)
Child Nodes:
Sister Nodes:
..Acneiform Eruptions (D017486) 5
..Angiolymphoid Hyperplasia with Eosinophilia (D000796)
..Borrone Di Rocco Crovato syndrome (C536577)
..Boudhina Yedes Khiari syndrome (C537939)
..Breast Diseases (D001941) 45
..C SYNDROME (OMIM:211750)
..Cutaneous Fistula (D017577)
..Dermatitis (D003872) 57
..Dermatoleukodystrophy (C538220)
..Dermatomyositis (D003882) 2
..Ectodermal dysplasia/ skin fragility syndrome (C536183)
..Elastosis perforans serpiginosa (C536202)
..Elliott Ludman Teebi syndrome (C536204)
..Erythema (D004890) 19
..Exanthema (D005076) 1
..Eyebrows duplication of, with stretchable skin and syndactyly (C536383)
..FACES syndrome (C536384)
..Facial Dermatoses (D005148) 11
..Facial ectodermal dysplasia (C536385)
..Flynn Aird syndrome (C537066)
..Foot Diseases (D005534) 13
..Hair Diseases (D006201) 174
..Hand Dermatoses (D006229) 1
..Hernandez Fragoso syndrome (C536062)
..Keratoacanthoma (D007636) 1
..Keratosis (D007642) 149
..Leg Dermatoses (D007868)
..Lipomatosis (D008068) 11
..Lupus Erythematosus, Cutaneous (D008178) 3
..Macroepiphyseal dysplasia, McAlister Coe type (C537721)
..MASS syndrome (C536030)
..Mastocytosis (D008415) 9
..Median cleft lip, corpus callosum, lipoma, and skin polyps (C536135)
..Mental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities (C567209)
..Morgellons Disease (D055535)
..Nail Diseases (D009260) 42
..Necrobiotic Disorders (D017441) 3
..Necrolytic Migratory Erythema (D058568)
..Nephrogenic Fibrosing Dermopathy (D054989)
..OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS (OMIM:612852)
..Panniculitis (D015434) 6
..Photosensitivity Disorders (D010787) 31
..Pigmentation Disorders (D010859) 147
..Prurigo (D011536)
..Pruritus (D011537) 6
..Pseudoatrophoderma Colli (C562909)
..Pyoderma (D011711) 3
..Rosacea (D012393) 1
..Roy Maroteaux Kremp syndrome (C535875)
..Scalp Dermatoses (D012536) 10
..Scleredema Adultorum (D012592)
..Scleroderma, Localized (D012594) 5
..Scleroderma, Systemic (D012595) 7
..Sebaceous Gland Diseases (D012625) 12
..Skin Abnormalities (D012868) 358
..Skin Diseases, Eczematous (D017443) 35
..Skin Diseases, Genetic (D012873) 462
..Skin Diseases, Infectious (D012874) 103
..Skin Diseases, Metabolic (D012875) 33
..Skin Diseases, Papulosquamous (D017444) 26
..Skin Diseases, Vascular (D017445) 33
..Skin Diseases, Vesiculobullous (D012872) 54
..Skin Neoplasms (D012878) 41
..Skin Ulcer (D012883) 10
..Sweat Gland Diseases (D013543) 25
..Upton Young syndrome (C536473)
..Xanthogranuloma, Juvenile (D014972)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8421

Name:

OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS

Definition:

Alternative IDs:

ParentIDs:

MESH:D010019|MESH:D010522|MESH:D012871

TreeNumbers:

C01.539.160.495/612852 |C01.539.160.595/612852 |C05.116.165.495/612852 |C05.116.165.595/612852 |C17.800/612852

Synonyms:

DIRA |INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY |OMPP

Slim Mappings:

Bacterial infection or mycosis|Musculoskeletal disease|Skin disease

Reference:

MedGen: 612852
MeSH: 612852
OMIM: 612852;

Genes: IL1RN;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040283
3	HP:0002829	Arthralgia
4	HP:0025092	Epidermal acanthosis
5	HP:0025116	Fetal distress
6	HP:0002949	Fused cervical vertebrae	HP:0040283
7	HP:0002240	Hepatomegaly
8	HP:0000962	Hyperkeratosis
9	HP:0001386	Joint swelling
10	HP:0002754	Osteomyelitis
11	HP:0040165	Periostitis
12	HP:0002098	Respiratory distress	HP:0040283
13	HP:0001744	Splenomegaly
14	HP:0010280	Stomatitis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_173842.2(IL1RN):c.160C>T (p.Gln54Ter)	3557	IL1RN	Pathogenic	121913162	RCV000015790; RCV000084164;	N	MedGen:C2748507,OMIM:612852,ORPHA:210115; MedGen:CN221809	2	113887196	113887196	NM_173842.2:c.160C>T	NP_776214.1:p.Gln54Ter	NC_000002.11:g.113887196C>T	OMIM Allelic Variant:147679.0003	CN221809 not provided; C2748507 612852 Osteomyelitis, sterile multifocal, with periostitis and pustulosis
NM_173842.2(IL1RN):c.229G>T (p.Glu77Ter)	3557	IL1RN	Pathogenic	121913161	RCV000015789; RCV000084165;	N	MedGen:C2748507,OMIM:612852,ORPHA:210115; MedGen:CN221809	2	113888645	113888645	NM_173842.2:c.229G>T	NP_776214.1:p.Glu77Ter	NC_000002.11:g.113888645G>T	OMIM Allelic Variant:147679.0002	CN221809 not provided; C2748507 612852 Osteomyelitis, sterile multifocal, with periostitis and pustulosis