DiseaseID 22099
念珠状发
disease
Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.
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Disease: 1Formula: 4Herb: 11Symptom: 7Target: 23Links: 46
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 22099
- Core Entity Id
- 80887
- Source Entity Count
- 1
- Preferred Name
- Monilethrix
- Name Cn
- 念珠状发
- Name Pinyin
- Nian Zhu Zhuang Fa
- Name En
- Monilethrix
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Skin and Connective Tissue DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic disease
- Hpo Class
- Abnormality of the integument
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue DiseasesPathological Conditions, Signs and Symptoms; Skin and Connective Tissue DiseasesSkin and Connective Tissue Diseases
- Hpo Class Name
- Abnormality of the integument
- Do Class Name
- disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
- Disease Definition
- Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Monilethrix
Role
preferred
Name
Atrichia With Papular Lesions
Role
preferred
Name
Hypotrichosis
Role
preferred
Name
Hypotrichosis 1
Role
preferred
Name
Hypotrichosis 11
Role
preferred
Name
Hypotrichosis 12
Role
preferred
Name
Hypotrichosis 13
Role
preferred
Name
Hypotrichosis 7
Role
preferred
Name
Hypotrichosis 8
Role
preferred
Name
Hypotrichosis Simplex
Role
preferred
Name
Uncombable Hair Syndrome
Role
preferred
Name
Uncombable Hair Syndrome 1
Role
preferred
Name
Woolly Hair, Autosomal Dominant
Role
preferred
Name
Woolly Hair, Autosomal Recessive 3
Role
preferred
Name
Congenital Hypotrichia
Role
preferred
Name
Other Specified Nonscarring Hair Loss
Role
preferred
Name
Pili Annulati
Role
preferred
Name
Total Hypotrichosis, Mari Type
Role
preferred
Name
UNCOMBABLE HAIR SYNDROME 3
Role
preferred
Name
WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS
Role
preferred
Name
WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS
Role
preferred
Name
Woolly Hair
Role
preferred
Name
ADWH
Role
alias
Name
AH
Role
alias
Name
APL
Role
alias
Name
ARWH1
Role
alias
Name
ARWH2
Role
alias
Name
ARWH3
Role
alias
Name
Congenital Hypotrichosis
Role
alias
Name
HHS
Role
alias
Name
HTS
Role
alias
Name
HYPOTRICHOSIS SIMPLEX, GENERALIZED, HEREDITARY
Role
alias
Name
HYPOTRICHOSIS WITH WOOLLY HAIR
Role
alias
Name
HYPOTRICHOSIS, AUTOSOMAL RECESSIVE
Role
alias
Name
HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 2
Role
alias
Name
HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3
Role
alias
Name
HYPOTRICHOSIS, TOTAL, MARI TYPE
Role
alias
Name
HYPT1
Role
alias
Name
HYPT11
Role
alias
Name
HYPT12
Role
alias
Name
HYPT13
Role
alias
Name
HYPT7
Role
alias
Name
HYPT8
Role
alias
Name
Hereditary Hypotrichosis Simplex
Role
alias
Name
Hypotrichosis, Infantile
Role
alias
Name
Hypotrichosis, Localized, Autosomal Recessive, 3
Role
alias
Name
LAH2
Role
alias
Name
LAH3
Role
alias
Name
MNLIX
Role
alias
Name
Marked Hypotrichosis
Role
alias
Name
Moniliform Hair Syndrome
Role
alias
Name
PAPULAR ATRICHIA
Role
alias
Name
PILI TRIANGULI ET CANALICULI
Role
alias
Name
Ringed Hair
Role
alias
Name
Sparse Hair Since Birth
Role
alias
Name
UHS
Role
alias
Name
UHS1
Role
alias
Name
WH/HT
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0001006
Herb
HBDIS001506HBDIS005585HBDIS009449HBDIS009705HBDIS010099HBDIS015463HBDIS016457HBDIS017024HBDIS017695HBDIS017767HBDIS020584HBDIS021200HBDIS021853HBDIS023038HBDIS023042HBDIS026237HBDIS027249HBDIS027364HBDIS027772HBDIS029839
Me Sh
D007039D056734
Omim
158000180600191480194300209500278150604379605389615059615885615896616760617251617252
Umls
C0020678C0343073C0432347C0546966C1836672C1848435C1854310C1859592C1860238C3148823C3148824C3279470C3554409C4014563C4014616C4225214
Icd10
L65.8Q84.1
Med Dra
10048017
Sym Map
SMDE00311SMDE00438SMDE01306SMDE01331SMDE02061SMDE02137SMDE02264SMDE02396SMDE03292SMDE03609SMDE03621SMDE03681SMDE04652SMDE05125SMDE09733
Do Class
DOID:630DOID:7
Dis Ge Net
C0020678C0263489C0432347C0477506C0546966C1836672C1848435C1854310C1859592C1860238C3148823C3279470C3554409C4014563C4014616C4225214C4310648C4551573C4551976C4721530
Orphanet
141017055654573
Umls Sty
T019T033T047
Hpo Class
HP:0001574
Me Sh Class
C16C17C23
Etcm Disease
Atrichia with Papular LesionsHypotrichosis 1Hypotrichosis 11Hypotrichosis 12Hypotrichosis 13Hypotrichosis 7Hypotrichosis 8Hypotrichosis SimplexMonilethrix
Tcmbank Disease
141091451914767157131594616530167301698617110174951802222229227402541729581302713044675327818499671
Itcmdb Generated
ITX-DISEASE-18D12CDA52EFITX-DISEASE-284648CF0769ITX-DISEASE-377F841D4F92ITX-DISEASE-5C0755548DCEITX-DISEASE-63EEF4B190CEITX-DISEASE-6645B6745994ITX-DISEASE-80FE3F617D80ITX-DISEASE-8F56F44369C9ITX-DISEASE-9626A771D58DITX-DISEASE-990B166116AAITX-DISEASE-A097B61061E2ITX-DISEASE-A6D630EA557AITX-DISEASE-B261B069ECC3ITX-DISEASE-B6D709167860ITX-DISEASE-D757E0AC9E49
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
01
Page Title
Disease Atrichia with Papular Lesions Details pageDisease Hypotrichosis 1 Details pageDisease Hypotrichosis 11 Details pageDisease Hypotrichosis 12 Details pageDisease Hypotrichosis 13 Details pageDisease Hypotrichosis 7 Details pageDisease Hypotrichosis 8 Details pageDisease Hypotrichosis Simplex Details pageDisease Monilethrix Details page
Do Class Name
disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the integument
Link Disease Id
1331.02061.0
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic disease
Hpo Disease Class
Abnormality of the integument
Umls Disease Type
Congenital AbnormalityDisease or SyndromeFinding
Basic Information
Disease Name
Atrichia with Papular Lesions
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Skin diseases
Disease Name
Hypotrichosis 1
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Oral diseases
Disease Name
Hypotrichosis 11
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Oral diseases
Disease Name
Hypotrichosis 12
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Oral diseases
Disease Name
Hypotrichosis 13
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Oral diseases
Disease Name
Hypotrichosis 7
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Oral diseases
Disease Name
Hypotrichosis 8
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Oral diseases
Disease Name
Hypotrichosis Simplex
Global Category
Rare diseases
Anatomical Category
Skin diseases
Disease Name
Monilethrix
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Skin diseases
Disease Definition
Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.NCI2016_02D:A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body.|MSH2017_2016_08_12:Presence of less than the normal amount of hair. (Dorland, 27th ed)|HPO2016_07_04:Congenital lack of hair growth. [HPO:probinson]SNOMEDCT_US_2016_09_01:The patients are born with hair that falls out and is not replaced. Histologic studies show malformation of the hair follicles. Papillary lesions over most of the body and almost complete absence of hair are features.Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.
Me Sh Disease Class
Skin and Connective Tissue DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue DiseasesPathological Conditions, Signs and Symptoms; Skin and Connective Tissue DiseasesSkin and Connective Tissue Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or SyndromeFinding