DiseaseID 16124
蜗牛样髂骨
disease
Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term).
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Disease: 1Formula: 24Herb: 12Symptom: 12Target: 24Links: 72
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 16124
- Core Entity Id
- 74153
- Source Entity Count
- 1
- Preferred Name
- Snail-Like Ilia
- Name Cn
- 蜗牛样髂骨
- Name Pinyin
- Wo Niu Yang Qia Gu
- Name En
- Snail-Like Ilia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Immune System Diseases; Respiratory Tract Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMental Disorders; Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Endocrine System Diseases; Musculoskeletal DiseasesMusculoskeletal DiseasesMusculoskeletal Diseases; Endocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Endocrine System Diseases; Respiratory Tract Diseases; Musculoskeletal DiseasesWounds and Injuries; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic disease
- Hpo Class
- Abnormality of the skeletal systemAbnormality of the skeletal system; Abnormality of limbs
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and InjuriesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Endocrine System Diseases; Stomatognathic DiseasesMusculoskeletal DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
- Hpo Class Name
- Abnormality of limbs; Abnormality of the skeletal systemAbnormality of the skeletal system
- Do Class Name
- disease of anatomical entitygenetic disease; disease of anatomical entity
- Disease Definition
- Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term).
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Snail-Like Ilia
Role
preferred
Name
Dyggve-Melchior-Clausen Disease
Role
preferred
Name
Dyssegmental Dysplasia, Silverman-Handmaker Type
Role
preferred
Name
Fibrochondrogenesis
Role
preferred
Name
Fibrochondrogenesis 1
Role
preferred
Name
Fibrochondrogenesis 2
Role
preferred
Name
Frontometaphyseal Dysplasia
Role
preferred
Name
Frontometaphyseal Dysplasia 1
Role
preferred
Name
Kniest Dysplasia
Role
preferred
Name
Metaphyseal Anadysplasia
Role
preferred
Name
Metaphyseal Anadysplasia 2
Role
preferred
Name
Metaphyseal Chondrodysplasia, Schmid Type
Role
preferred
Name
Otospondylomegaepiphyseal Dysplasia
Role
preferred
Name
Schneckenbecken Dysplasia
Role
preferred
Name
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Role
preferred
Name
Spondyloepimetaphyseal Dysplasia, Missouri Type
Role
preferred
Name
Spondyloepiphyseal Dysplasia Congenita
Role
preferred
Name
Spondyloepiphyseal Dysplasia, Kimberley Type
Role
preferred
Name
Arthropathy, Progressive Pseudorheumatoid, Of Childhood
Role
preferred
Name
Dyggve-Melchior-Clausen Syndrome
Role
preferred
Name
Dyssegmental Dysplasia
Role
preferred
Name
FRONTOMETAPHYSEAL DYSPLASIA 2
Role
preferred
Name
Megaepiphyseal Dwarfism
Role
preferred
Name
Metaphyseal Anadysplasia 1
Role
preferred
Name
Metaphyseal Chondrodysplasia Schmid Type
Role
preferred
Name
Metaphyseal Dysplasia, Spahr Type
Role
preferred
Name
Progressive Pseudorheumatoid Dysplasia
Role
preferred
Name
Pyle Metaphyseal Dysplasia
Role
preferred
Name
Schimke Immunoosseous Dysplasia
Role
preferred
Name
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Role
preferred
Name
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Role
preferred
Name
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Role
preferred
Name
Spondyloepiphyseal Dysplasia Tarda
Role
preferred
Name
Spondyloepiphyseal Dysplasia, Congenita
Role
preferred
Name
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Role
preferred
Name
Weissenbacher- Zweymuller Syndrome
Role
preferred
Name
X-Linked Dyggve-Melchior-Clausen Syndrome
Role
preferred
Name
ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, SILVERMAN-HANDMAKER TYPE
Role
alias
Name
CHONDRODYSPLASIA, LETHAL NEONATAL, WITH SNAIL-LIKE PELVIS
Role
alias
Name
CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS
Role
alias
Name
Chondrodysplasia With Snail-like Pelvis
Role
alias
Name
Congenital Spondyloepiphyseal Dysplasia
Role
alias
Name
DDSH
Role
alias
Name
DMC
Role
alias
Name
DYSSEGMENTAL DWARFISM, SILVERMAN-HANDMAKER TYPE
Role
alias
Name
Dyggve-Melchior-Clausen Syndrome, X-Linked
Role
alias
Name
FBCG1
Role
alias
Name
FBCG2
Role
alias
Name
FMD
Role
alias
Name
FMD1
Role
alias
Name
MANDP1
Role
alias
Name
MANDP2
Role
alias
Name
MCDS
Role
alias
Name
Maroteaux-Verloes-Stanescu Syndrome
Role
alias
Name
Metaphyseal Dysplasia
Role
alias
Name
NANCE-INSLEY SYNDROME
Role
alias
Name
NANCE-SWEENEY CHONDRODYSPLASIA
Role
alias
Name
OSMED
Role
alias
Name
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Role
alias
Name
Progressive Pseudorheumatoid Arthropathy of Childhood
Role
alias
Name
Pyle Disease
Role
alias
Name
Regressive Metaphyseal Dysplasia
Role
alias
Name
SED CONGENITA
Role
alias
Name
SEDC
Role
alias
Name
SEDK
Role
alias
Name
SEMD Type 2
Role
alias
Name
SEMD, AGGRECAN TYPE
Role
alias
Name
SEMD, Missouri Type
Role
alias
Name
SLC35D1-CDG
Role
alias
Name
SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE
Role
alias
Name
SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE
Role
alias
Name
Schmid Metaphyseal Chondrodysplasia
Role
alias
Name
Semdjl1
Role
alias
Name
Silverman-Handmaker Type Dyssegmental Dysplasia
Role
alias
Name
Snail-Like Pelvis
Role
alias
Name
Snail-Shaped Ilia
Role
alias
Name
Spondyloepimetaphyseal Dysplasia Type 2
Role
alias
Name
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Role
alias
Name
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Role
alias
Name
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Role
alias
Name
Spondyloepiphyseal Dysplasia
Role
alias
Name
Spranger-Wiedemann Disease
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0031026HP:0100255
Herb
HBDIS005791HBDIS005794HBDIS005796HBDIS005798HBDIS005802HBDIS005803HBDIS009392HBDIS009400HBDIS009406HBDIS009416HBDIS012281HBDIS015912HBDIS016114HBDIS016581HBDIS017138HBDIS017379HBDIS018052HBDIS018242HBDIS019736HBDIS019757HBDIS019768HBDIS019935HBDIS021163HBDIS021381HBDIS025979HBDIS026272HBDIS026836
Omim
156500156550183900184100208230215150223800224410228520242900249230265900269250271600271640277610304950305620602111603546608361612813613073614524617137
Umls
C0265279C0265282C0265286C0265289C0265293C0432194C0432215C0432225C0432226C0432243C0700635C0796173C0877024C1842149C1848488C1855310C1857100C1863732C1865832C2745959C2748495C2748544C2751322C3278138C3281128C4281559
Icd10
Q77.7Q78.5
Med Dra
1004869910062920
Sym Map
SMDE00081SMDE00423SMDE00427SMDE00488SMDE00680SMDE01086SMDE01301SMDE01407SMDE01421SMDE01539SMDE01958SMDE02148SMDE02211SMDE02598SMDE02666SMDE02762SMDE03144SMDE03541SMDE03679SMDE04238SMDE04298SMDE04349SMDE04465SMDE04625SMDE04981SMDE05008
Do Class
DOID:630DOID:7
Dis Ge Net
C0265279C0265282C0265286C0265289C0265293C0265294C0432194C0432215C0432226C0432243C0877024C1842149C1844654C1849290C1855310C1857100C1863732C1865832C2745959C2748495C2748544C2751322C3278138C3281128C4281559C4310697C4520892
Orphanet
1040115914271718661741826183018561865202123925013144345048593283932849334693356933599336094068
Umls Sty
T019T047
Hpo Class
HP:0000924HP:0040064
Me Sh Class
C05C07C08C10C12C13C14C16C17C19C20C23C26F01F03
Etcm Disease
Arthropathy, Progressive Pseudorheumatoid, of ChildhoodDyggve-Melchior-Clausen DiseaseDyssegmental Dysplasia, Silverman-Handmaker TypeFibrochondrogenesisFibrochondrogenesis 1Fibrochondrogenesis 2Frontometaphyseal DysplasiaFrontometaphyseal Dysplasia 1Frontometaphyseal Dysplasia 2Kniest DysplasiaMegaepiphyseal DwarfismMetaphyseal AnadysplasiaMetaphyseal Anadysplasia 2Metaphyseal Chondrodysplasia, Schmid TypeMetaphyseal Dysplasia, Spahr Type
Tcmbank Disease
100510407104911936119571265418406207282246244792458624600268752694427287273362754527856280742973530691493254125541720185089175
Itcmdb Generated
ITX-DISEASE-028CC954C814ITX-DISEASE-0FD4ACE238F3ITX-DISEASE-34DFEABFF58FITX-DISEASE-3D4257AFABD9ITX-DISEASE-3EC8C46B6B5AITX-DISEASE-4ABFE2ECCB8FITX-DISEASE-6206AF6D7965ITX-DISEASE-62F34B5E93B6ITX-DISEASE-6ED0AF94F471ITX-DISEASE-7420308DC052ITX-DISEASE-84320D76954DITX-DISEASE-8FC989C52CEAITX-DISEASE-BAFFBB8FB2C6ITX-DISEASE-BEC281EF79B1ITX-DISEASE-E3536281166DITX-DISEASE-E4264188F8AE
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Page Title
Disease Arthropathy, Progressive Pseudorheumatoid, of Childhood Details pageDisease Dyggve-Melchior-Clausen Disease Details pageDisease Dyssegmental Dysplasia, Silverman-Handmaker Type Details pageDisease Fibrochondrogenesis 1 Details pageDisease Fibrochondrogenesis 2 Details pageDisease Fibrochondrogenesis Details pageDisease Frontometaphyseal Dysplasia 1 Details pageDisease Frontometaphyseal Dysplasia 2 Details pageDisease Frontometaphyseal Dysplasia Details pageDisease Kniest Dysplasia Details pageDisease Megaepiphyseal Dwarfism Details pageDisease Metaphyseal Anadysplasia 2 Details pageDisease Metaphyseal Anadysplasia Details pageDisease Metaphyseal Chondrodysplasia, Schmid Type Details pageDisease Metaphyseal Dysplasia, Spahr Type Details page
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of limbs; Abnormality of the skeletal systemAbnormality of the skeletal system
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Hpo Disease Class
Abnormality of the skeletal systemAbnormality of the skeletal system; Abnormality of limbs
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Basic Information
Disease Name
Arthropathy, Progressive Pseudorheumatoid, of Childhood
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases
Disease Name
Dyggve-Melchior-Clausen Disease
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases
Disease Name
Dyssegmental Dysplasia, Silverman-Handmaker Type
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases
Disease Name
Fibrochondrogenesis
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Smell/Taste diseases
Disease Name
Fibrochondrogenesis 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Smell/Taste diseases
Disease Name
Fibrochondrogenesis 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Smell/Taste diseases
Disease Name
Frontometaphyseal Dysplasia
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Neuronal diseases
Disease Name
Frontometaphyseal Dysplasia 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Neuronal diseases
Disease Name
Frontometaphyseal Dysplasia 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Neuronal diseases
Disease Name
Kniest Dysplasia
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases
Disease Name
Megaepiphyseal Dwarfism
Global Category
Rare diseases
Anatomical Category
Bone diseases
Disease Name
Metaphyseal Anadysplasia
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases
Disease Name
Metaphyseal Anadysplasia 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases
Disease Name
Metaphyseal Chondrodysplasia, Schmid Type
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases
Disease Name
Metaphyseal Dysplasia, Spahr Type
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases
Disease Definition
Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term).Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature andFrontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder (see this term) and is characterized by anomalous ossification and skeletal patterning of the axial and appKniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of lifeNCI2016_02D:A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionateSchmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordoSpondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femSpondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (shoWeissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelo
Me Sh Disease Class
Cardiovascular Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Immune System Diseases; Respiratory Tract Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMental Disorders; Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Endocrine System Diseases; Musculoskeletal DiseasesMusculoskeletal DiseasesMusculoskeletal Diseases; Endocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Endocrine System Diseases; Respiratory Tract Diseases; Musculoskeletal DiseasesWounds and Injuries; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and InjuriesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Endocrine System Diseases; Stomatognathic DiseasesMusculoskeletal DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome