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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandBone Diseases, Developmental (D001848)
Parent Node:
expandHistiocytoma, Benign Fibrous (D018219)
Parent Node:
expandNeoplastic Syndromes, Hereditary (D009386)
..Starting node
..expandDiaphyseal medullary stenosis with malignant fibrous histiocytoma (C536169)

       Child Nodes:



 Sister Nodes: 
..expandAdenomatous Polyposis Coli (D011125) Child10
..expandBasal Cell Nevus Syndrome (D001478) Child1
..expandBirt-Hogg-Dube Syndrome (D058249)
..expandCancer, Familial, with In Vitro Radioresistance (C566179)
..expandCollagenoma, Familial Cutaneous (C562925)
..expandColorectal Neoplasms, Hereditary Nonpolyposis (D003123) Child10
..expandDiaphyseal medullary stenosis with malignant fibrous histiocytoma (C536169)
..expandDysplastic Nevus Syndrome (D004416)
..expandExostoses, Multiple Hereditary (D005097) Child14
..expandFamilial cylindromatosis (C536611)
..expandGenochondromatosis (C563215)
..expandHamartoma Syndrome, Multiple (D006223) Child10
..expandHemangioma, capillary infantile (C535860)
..expandHereditary Breast and Ovarian Cancer Syndrome (D061325)
..expandJuvenile polyposis syndrome (C537702)
..expandLi-Fraumeni Syndrome (D016864) Child4
..expandMelanoma-Pancreatic Cancer Syndrome (C563985)
..expandMeningioma, familial (C537443)
..expandMultiple Endocrine Neoplasia (D009377) Child6
..expandMyelocytic leukemia-like syndrome, familial, chronic (C536093)
..expandNeurofibromatoses (D017253) Child13
..expandParagangliomas 2 (C566646)
..expandParagangliomas 3 (C565335)
..expandPeutz-Jeghers Syndrome (D010580)
..expandProstate Cancer, Hereditary, 12 (C567510)
..expandTrichoepithelioma multiple familial (C536552)
..expandTuberous Sclerosis (D014402) Child4
..expandTurcot syndrome (C536928)
..expandWilms Tumor (D009396) Child10
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3337
Name:Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Definition:
Alternative IDs:OMIM:112250
ParentIDs:MESH:D001848|MESH:D009386|MESH:D018219
TreeNumbers:C04.557.450.565.590.425.350/C536169 |C04.700/C536169 |C05.116.099/C536169 |C16.320.700/C536169
Synonyms:BDMF |Bone dysplasia with malignant fibrous histiocytoma |Bone dysplasia with medullary fibrosarcoma |DMSMFH |MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY
Slim Mappings:Cancer|Genetic disease (inborn)|Musculoskeletal disease
Reference: MedGen: C536169
MeSH: C536169
OMIM: 112250;

Genes: AF8T; MTAP;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002979Bowing of the legs
3 HP:0000978Bruising susceptibilityHP:0040283
4 HP:0005045Diaphyseal cortical sclerosis
5 HP:0100244Fibrosarcoma
6 HP:0003084Fractures of the long bones
7 HP:0012315Histiocytoma
8 HP:0003690Limb muscle weakness
9 HP:0003325Limb-girdle muscle weakness
10 HP:0003198MyopathyHP:0040283
11 HP:0005010Osteomyelitis leading to amputation due to slow healing fractures
12 HP:0000938Osteopenia
13 HP:0002669Osteosarcoma
14 HP:0005686Patchy osteosclerosis
15 HP:0002756Pathologic fracture
16 HP:0002216Premature graying of hairHP:0040283
17 HP:0007819Presenile cataracts
18 HP:0003676Progressive
19 HP:0003701Proximal muscle weakness
20 HP:0003202Skeletal muscle atrophy
21 HP:0000977Soft skinHP:0040283
22 HP:0100254Stenosis of the medullary cavity of the long bones
23 HP:0000963Thin skinHP:0040283
Disease Causing ClinVar Variants