DiseaseID 13887
点状骨骺
disease
Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero leth
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Disease: 1Formula: 12Herb: 12Symptom: 12Target: 23Links: 60
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 13887
- Core Entity Id
- 71593
- Source Entity Count
- 1
- Preferred Name
- Stippled Epiphyses
- Name Cn
- 点状骨骺
- Name Pinyin
- Dian Zhuang Gu Hou
- Name En
- Stippled Epiphyses
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesMusculoskeletal DiseasesNutritional and Metabolic Diseases
- Do Class
- disease of anatomical entity; genetic diseasegenetic diseasesyndrome; genetic disease
- Hpo Class
- Abnormality of the skeletal system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesMusculoskeletal DiseasesNutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
- Hpo Class Name
- Abnormality of the skeletal system
- Do Class Name
- genetic diseasegenetic disease; disease of anatomical entitygenetic disease; syndrome
- Disease Definition
- Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero leth
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Stippled Epiphyses
Role
preferred
Name
Chondrodysplasia Punctata, Rhizomelic
Role
preferred
Name
Epiphyseal Dysplasia, Multiple, 3
Role
preferred
Name
Epiphyseal Dysplasia, Multiple, 6
Role
preferred
Name
Rhizomelic Chondrodysplasia Punctata, Type 1
Role
preferred
Name
Rhizomelic Chondrodysplasia Punctata, Type 2
Role
preferred
Name
Rhizomelic Chondrodysplasia Punctata, Type 3
Role
preferred
Name
Al-Gazali-Bakalinova Syndrome
Role
preferred
Name
Brachytelephalangic Chondrodysplasia Punctata
Role
preferred
Name
Calcinosis Universalis
Role
preferred
Name
Chondrodysplasia Punctata
Role
preferred
Name
Chondrodysplasia Punctata, X-Linked Dominant Type
Role
preferred
Name
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY
Role
preferred
Name
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
Role
preferred
Name
Epiphyseal Dysplasia
Role
preferred
Name
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Role
preferred
Name
Greenberg Dysplasia
Role
preferred
Name
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Role
preferred
Name
Multiple Epiphyseal Dysplasia Type 1
Role
preferred
Name
Multiple Epiphyseal Dysplasia Type 5
Role
preferred
Name
X-Linked Dominant Chondrodysplasia Punctata
Role
preferred
Name
AGPS DEFICIENCY
Role
alias
Name
ALKYLDIHYDROXYACETONEPHOSPHATE SYNTHASE DEFICIENCY
Role
alias
Name
ALKYLGLYCERONE-PHOSPHATE SYNTHASE DEFICIENCY
Role
alias
Name
Autosomal Dominant Chondrodysplasia Punctata
Role
alias
Name
CDPR
Role
alias
Name
CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC FORM
Role
alias
Name
CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC, DUE TO DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY
Role
alias
Name
CHONDRODYSTROPHIA CALCIFICANS PUNCTATA
Role
alias
Name
Chondrodysplasia Punctata 1, X-Linked Recessive
Role
alias
Name
Chondrodysplasia Punctata 2, X-Linked Dominant
Role
alias
Name
Chondrodysplasia Punctata, Brachytelephalangic
Role
alias
Name
Chondrodysplasia Punctata, Brachytelephalangic, Autosomal
Role
alias
Name
Conradi-Hunermann Syndrome
Role
alias
Name
DHAPAT DEFICIENCY
Role
alias
Name
DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY
Role
alias
Name
EDM3
Role
alias
Name
EDM6
Role
alias
Name
Epiphyseal Punctate Calcifications
Role
alias
Name
Epiphyseal Stippling
Role
alias
Name
GLYCERONEPHOSPHATE O-ACYLTRANSFERASE DEFICIENCY
Role
alias
Name
GNPAT DEFICIENCY
Role
alias
Name
Hunermann-Conradi Syndrome
Role
alias
Name
Multiple Epiphyseal Dysplasia 3
Role
alias
Name
Multiple Epiphyseal Dysplasia 4
Role
alias
Name
Multiple Epiphyseal Dysplasia 6
Role
alias
Name
Multiple Epiphyseal Dysplasia With Myopia And Deafness
Role
alias
Name
PBD9
Role
alias
Name
PEROXISOMAL DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY
Role
alias
Name
PEROXISOME BIOGENESIS DISORDER 9
Role
alias
Name
RCDP1
Role
alias
Name
RCDP2
Role
alias
Name
RCDP3
Role
alias
Name
Rhizomelic Chondrodysplasia Punctata
Role
alias
Name
Rhizomelic Chondrodysplasia Punctata Type 1
Role
alias
Name
Rhizomelic Chondrodysplasia Punctata Type 2
Role
alias
Name
Rhizomelic Chondrodysplasia Punctata Type 3
Role
alias
Name
Speckled Calcifications In End Part of Bone
Role
alias
Name
Stippling of The Epiphyses
Role
alias
Name
X-Linked Chondrodysplasia Punctata 1
Role
alias
Name
X-Linked Chondrodysplasia Punctata 2
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0002656HP:0010655
Herb
HBDIS000560HBDIS005606HBDIS007238HBDIS007256HBDIS008618HBDIS015137HBDIS015699HBDIS016151HBDIS016398HBDIS016808HBDIS017395HBDIS017619HBDIS017620HBDIS019410HBDIS020858HBDIS025922HBDIS025923
Me Sh
D002806D018902
Omim
132450215100222765226900302950302960600121600969602497614135
Umls
C0263627C0282102C0282529C1300226C1832998C1838612C1846722C1846843C1847593C1851536C1857242C1859133C2675767C2931048C3152083
Icd10
E71.540Q77.3
Sym Map
SMDE00164SMDE00612SMDE00943SMDE01008SMDE01021SMDE02157SMDE02362SMDE02739SMDE03273SMDE03886SMDE04039SMDE04255SMDE04574SMDE06694SMDE07062
Do Class
DOID:225DOID:630DOID:7
Dis Ge Net
C0008445C0263627C0282102C0282529C0392476C1832998C1838612C1844853C1847593C1851536C1857242C1859126C1859133C2675767C3152083C4275060C4275061
Orphanet
142616600216601116602435173933079330893311
Umls Sty
T019T033T047
Hpo Class
HP:0000924
Me Sh Class
C05C09C10C11C16C18C23
Etcm Disease
Al-Gazali-Bakalinova SyndromeEpiphyseal Dysplasia, Multiple, 3Epiphyseal Dysplasia, Multiple, 4Epiphyseal Dysplasia, Multiple, 6Epiphyseal Dysplasia, Multiple, with Myopia and Conductive DeafnessGreenberg DysplasiaMultiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly
Tcmbank Disease
10208106411079612258165061845919154196772046420498236212398127706279663102350815578
Itcmdb Generated
ITX-DISEASE-29390CA24FE8ITX-DISEASE-3A2CE202D9C5ITX-DISEASE-3B60A4A89E8CITX-DISEASE-4D1889ABF44AITX-DISEASE-6DF4C760663EITX-DISEASE-6E47344D3A44ITX-DISEASE-88F62AB2CA83ITX-DISEASE-8F6F9B29A9FEITX-DISEASE-B4232FAADC00ITX-DISEASE-BB69B5BD643DITX-DISEASE-FF2053E4176D
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Al-Gazali-Bakalinova Syndrome Details pageDisease Epiphyseal Dysplasia, Multiple, 3 Details pageDisease Epiphyseal Dysplasia, Multiple, 4 Details pageDisease Epiphyseal Dysplasia, Multiple, 6 Details pageDisease Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness Details pageDisease Greenberg Dysplasia Details pageDisease Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly Details page
Do Class Name
genetic diseasegenetic disease; disease of anatomical entitygenetic disease; syndrome
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of the skeletal system
Do Disease Class
disease of anatomical entity; genetic diseasegenetic diseasesyndrome; genetic disease
Hpo Disease Class
Abnormality of the skeletal system
Umls Disease Type
Congenital AbnormalityDisease or SyndromeFinding
Basic Information
Disease Name
Al-Gazali-Bakalinova Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases
Disease Name
Epiphyseal Dysplasia, Multiple, 3
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases
Disease Name
Epiphyseal Dysplasia, Multiple, 4
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases
Disease Name
Epiphyseal Dysplasia, Multiple, 6
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases
Disease Name
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Eye diseases
Disease Name
Greenberg Dysplasia
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases
Disease Name
Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases
Disease Definition
Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethMultiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of eMultiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and preNCI2016_02D:An autosomal recessive inherited peroxisomal disorder caused by mutations in the PEX7, DHAPAT, and AGP genes. It is characterized by short limbs, bones and cartilage abnormalities, congenital cataracts, and severe mental retardation.|MSH2017_2016_08_12:An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)SNOMEDCT_US_2016_09_01:A multiple epiphyseal dysplasia with a late-childhood onset manifesting as joint pain involving hips, knees, wrists and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees, scoliosis and slightly reduced adult height. Follows an autosomal recessive mode of transmissionX-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesMusculoskeletal DiseasesNutritional and Metabolic Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesMusculoskeletal DiseasesNutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or SyndromeFinding