DiseaseID 12547
致死性发育不良
disease
NCI2016_02D:A severe autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by multiple skeletal abnormalities, including extremely short limbs. It results in the death of the ne
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Disease: 1Symptom: 5Target: 10Links: 15
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 12547
- Core Entity Id
- 70072
- Source Entity Count
- 1
- Preferred Name
- Thanatophoric Dysplasia
- Name Cn
- 致死性发育不良
- Name Pinyin
- Zhi Si Xing Fa Yu Bu Liang
- Name En
- Thanatophoric Dysplasia
- 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 Diseases
- Do Class
- disease of anatomical entity
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Hpo Class Name
- Do Class Name
- disease of anatomical entity
- Disease Definition
- NCI2016_02D:A severe autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by multiple skeletal abnormalities, including extremely short limbs. It results in the death of the neonate.|MSH2017_2016_08_12:A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.|JABL99:A severe skeletal dysplasia characterized chiefly by rhizomelic shortness of the limbs with skin redundancy, narrow chest with flattened vertebral bodies, a short pelvis, and disproportionately large head with frontal bossing and cloverleaf skull, prominent eyes, hypertelorism, and depressed nasal bridge. The condition is usually lethal at birth (hence the term thanatophoric meaning "death bearing," in Greek) but some patients may survive into the childhood. Those who survive are severely retarded and suffer from respiratory insufficiency due to reduced chest circumference and/or lower brain stem compression caused by a small foramen magnum and a variety of central nervous system and other abnormalities. Two basic types are recognized: Type I (TD1) with curved femora and flat vertebral bodies. Type II (TD2) with straight femora, taller vertebral bodies, \ and cloverleaf skull.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Thanatophoric Dysplasia
Role
preferred
Name
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
Role
preferred
Name
Thanatophoric Dysplasia Type 1
Role
preferred
Name
Thanatophoric Dysplasia Type 2
Role
preferred
Name
Thanatophoric Dysplasia, Type 1
Role
preferred
Name
Thanatophoric Dysplasia, Type 2
Role
preferred
Name
Cloverleaf Skull With Thanatophoric Dwarfism
Role
alias
Name
Thanatophoric Dysplasia, Type I
Role
alias
Name
Thanatophoric Dysplasia, Type Ii
Role
alias
Name
Thanatophoric Short Stature
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS002926HBDIS013329HBDIS013330HBDIS018469
Me Sh
D013796
Omim
156830187600187601
Umls
C0039743C1834928C2931282
Icd10
Q77.1
Sym Map
SMDE00717SMDE03019SMDE13843
Do Class
DOID:7
Dis Ge Net
C0039743C1300256C1300257C1868678
Orphanet
186093274
Umls Sty
T019T047
Me Sh Class
C05C16
Tcmbank Disease
123118838195722902
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Do Class Name
disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Disease Definition
NCI2016_02D:A severe autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by multiple skeletal abnormalities, including extremely short limbs. It results in the death of the neonate.|MSH2017_2016_08_12:A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.|JABL99:A severe skeletal dysplasia characterized chiefly by rhizomelic shortness of the limbs with skin redundancy, narrow chest with flattened vertebral bodies, a short pelvis, and disproportionately large head with frontal bossing and cloverleaf skull, prominent eyes, hypertelorism, and depressed nasal bridge. The condition is usually lethal at birth (hence the term thanatophoric meaning "death bearing," in Greek) but some patients may survive into the childhood. Those who survive are severely retarded and suffer from respiratory insufficiency due to reduced chest circumference and/or lower brain stem compression caused by a small foramen magnum and a variety of central nervous system and other abnormalities. Two basic types are recognized: Type I (TD1) with curved femora and flat vertebral bodies. Type II (TD2) with straight femora, taller vertebral bodies, \ and cloverleaf skull.Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattsc
Me Sh Disease Class
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; Musculoskeletal Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome