DiseaseID 12651
毛发硫营养不良综合征
disease
JABL99:A syndrome of trichothiodystrophy (sulfur-deficient brittle hair) with photosensitivity, ichthyosiform erythroderma, progeria-like facies, growth and mental retardation, occasional infertility, and variable other
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Disease: 1Symptom: 3Target: 12Links: 15
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 12651
- Core Entity Id
- 70191
- Source Entity Count
- 1
- Preferred Name
- Trichothiodystrophy Syndromes
- Name Cn
- 毛发硫营养不良综合征
- Name Pinyin
- Mao Fa Liu Ying Yang Bu Liang Zong He Zheng
- Name En
- Trichothiodystrophy Syndromes
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- JABL99:A syndrome of trichothiodystrophy (sulfur-deficient brittle hair) with photosensitivity, ichthyosiform erythroderma, progeria-like facies, growth and mental retardation, occasional infertility, and variable other defects. When photosensitivity is present, the syndrome is known as PIBIDS or PIBI(D)S; without photosensitivity it is referred to as IBIDS. Syndromes which have brittle hair, impaired intelligence, decreased fertility, and short stature, but no ichthyosis, are referred to as BIDS (see Amish brittle hair syndrome).
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Trichothiodystrophy Syndromes
Role
preferred
Name
Amish Brittle Hair Syndrome
Role
preferred
Name
Tricho Thiodystrophy Disorder
Role
preferred
Name
Trichorrhexis Nodosa Syndrome
Role
preferred
Name
Trichothiodystrophy 4, Nonphotosensitive
Role
preferred
Name
Amish Brittle Hair Brain Syndrome
Role
preferred
Name
Photosensitive Trichothiodystrophy
Role
preferred
Name
Tricho-Thiodystrophy Disorder
Role
preferred
Name
Trichothiodystrophy, Nonphotosensitive 1
Role
preferred
Name
ABHS
Role
alias
Name
BIDS SYNDROME
Role
alias
Name
HAIR-BRAIN SYNDROME
Role
alias
Name
Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation
Role
alias
Name
Nonphotosensitive Trichothiodystrophy
Role
alias
Name
POLLITT SYNDROME
Role
alias
Name
TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME
Role
alias
Name
TTD4
Role
alias
Name
TTDN1
Role
alias
Name
Trichothiodystrophy 1, Photosensitive
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS009424HBDIS013459HBDIS018315HBDIS018568HBDIS021501HBDIS025546
Me Sh
D054463
Omim
234050601675
Umls
C0432267C1313961C1955934C3495483C4083251
Sym Map
SMDE03812SMDE05766SMDE12152SMDE13998SMDE14002SMDE14005
Do Class
DOID:630
Dis Ge Net
C0432267C1313961C1866504C1955934C3495483C4083251
Umls Sty
T047
Me Sh Class
C16C17
Tcmbank Disease
15933217282856530036304544468
Itcmdb Generated
ITX-DISEASE-3DD9837CAF22ITX-DISEASE-7017FEEDB8E9ITX-DISEASE-AFBF585ABAA9
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Disease or Syndrome
Disease Definition
JABL99:A syndrome of trichothiodystrophy (sulfur-deficient brittle hair) with photosensitivity, ichthyosiform erythroderma, progeria-like facies, growth and mental retardation, occasional infertility, and variable other defects. When photosensitivity is present, the syndrome is known as PIBIDS or PIBI(D)S; without photosensitivity it is referred to as IBIDS. Syndromes which have brittle hair, impaired intelligence, decreased fertility, and short stature, but no ichthyosis, are referred to as BIDS (see Amish brittle hair syndrome).JABL99:A trichothiodystrophy syndrome (sulfur-deficient brittle hair), short stature, mental deficiency poor sexual maturation, and infertility originally observed in the Amish kindred. This syndrome has the main characteristics of Tay syndrome (brittle hair, impaired intelligence, decreased fertility, and short stature), except for ichthyosis. Originally observed in an Amish family (hence its name) in Indiana, the syndrome was later reported in other groups, including a Moroccan family.JABL99:Trichorrhexis nodosa, psychomotor retardation, and microcephaly in association with hair deficient in high-sulfur proteins.NCI2016_NCI-GLOSS_1602D:A hereditary condition characterized by sparse and brittle hair, short stature, and mental retardation.|NCI2016_02D:A rare, autosomal recessive inherited syndrome characterized by brittle hair, mental and physical retardation, and decreased fertility.|MSH2017_2016_08_12:Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene.
Me Sh Disease Class
Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
Umls Semantic Type Name
Disease or Syndrome