DiseaseID 5048
雷夫叙姆病
disease
3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Formula: 12Herb: 2Symptom: 12Target: 24Links: 50
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5048
- Core Entity Id
- 61488
- Source Entity Count
- 1
- Preferred Name
- Refsum Disease
- Name Cn
- 雷夫叙姆病
- Name Pinyin
- Lei Fu Xu Mu Bing
- Name En
- Refsum Disease
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and SymptomsDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesEndocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Digestive System Diseases; Male Urogenital DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
- Do Class
- genetic diseasegenetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic diseasegenetic disease
- Disease Definition
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Refsum Disease
Role
preferred
Name
Carnitine Palmitoyl Transferase 2 Deficiency
Role
preferred
Name
Neonatal Adrenoleukodystrophy
Role
preferred
Name
Peroxisomal Disorders
Role
preferred
Name
Peroxisome Biogenesis Disorder 11B
Role
preferred
Name
Peroxisome Biogenesis Disorder 2A (Zellweger)
Role
preferred
Name
Peroxisome Biogenesis Disorder 2B
Role
preferred
Name
Peroxisome Biogenesis Disorder 3B
Role
preferred
Name
Peroxisome Biogenesis Disorder 4B
Role
preferred
Name
Peroxisome Biogenesis Disorder 5B
Role
preferred
Name
Peroxisome Biogenesis Disorder 6A (Zellweger)
Role
preferred
Name
Peroxisome Biogenesis Disorder 7A (Zellweger)
Role
preferred
Name
Peroxisome Biogenesis Disorder 8A (Zellweger)
Role
preferred
Name
Peroxisome Biogenesis Disorder 8B
Role
preferred
Name
Peroxisome Biogenesis Disorder 9B
Role
preferred
Name
Peroxisome Biogenesis Disorder, Complementation Group 11
Role
preferred
Name
Perrault Syndrome 1
Role
preferred
Name
Perrault Syndrome 2
Role
preferred
Name
Perrault Syndrome 3
Role
preferred
Name
Perrault Syndrome 4
Role
preferred
Name
Refsum Disease, Adult, 1
Role
preferred
Name
Refsum Disease, Adult, 2
Role
preferred
Name
Refsum Disease, Classic
Role
preferred
Name
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Role
preferred
Name
Adrenoleukodystrophy, Neonatal
Role
preferred
Name
Bifunctional Peroxisomal Enzyme Deficiency
Role
preferred
Name
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
Role
preferred
Name
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
Role
preferred
Name
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
Role
preferred
Name
Carnitine Deficiency, Systemic Primary
Role
preferred
Name
Carnitine Palmitoyl Transferase 1A Deficiency
Role
preferred
Name
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Role
preferred
Name
Disorder of Fatty Acid Metabolism
Role
preferred
Name
Gonadal Dysgenesis Xx Type Deafness
Role
preferred
Name
Hyperpipecolic Acidemia
Role
preferred
Name
Infantile Refsum Disease (Disorder)
Role
preferred
Name
PEROXISOME BIOGENESIS DISORDER 10B
Role
preferred
Name
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
Role
preferred
Name
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
Role
preferred
Name
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
Role
preferred
Name
Peroxisomal ACYL-COA oxidase deficiency
Role
preferred
Name
Peroxisomal Dysfunction, General
Role
preferred
Name
Peroxisomal Dysfunction, Multiple
Role
preferred
Name
Peroxisomal Dysfunction, Single
Role
preferred
Name
Peroxisome Biogenesis Disorder 12A (Zellweger)
Role
preferred
Name
Peroxisome Biogenesis Disorder 1B
Role
preferred
Name
Peroxisome Biogenesis Disorder, Complementation Group 1
Role
preferred
Name
Peroxisome Biogenesis Disorder, Complementation Group 7
Role
preferred
Name
Peroxisome Biogenesis Disorder, Complementation Group 8
Role
preferred
Name
Peroxisome Biogenesis Disorder, Complementation Group D
Role
preferred
Name
Peroxisome Biogenesis Disorder, Complementation Group H
Role
preferred
Name
Peroxisome Biogenesis Disorder, Complementation Group R
Role
preferred
Name
Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency
Role
preferred
Name
Zellweger Spectrum
Role
preferred
Name
Zellweger Syndrome
Role
preferred
Name
Zellweger-Like Syndrome
Role
preferred
Name
Adult Refsum Disease
Role
alias
Name
CG11
Role
alias
Name
CG2
Role
alias
Name
CG7
Role
alias
Name
CG8
Role
alias
Name
CG9
Role
alias
Name
CGA
Role
alias
Name
CGB
Role
alias
Name
CGD
Role
alias
Name
CGR
Role
alias
Name
Carnitine Palmitoyltransferase I Deficiency
Role
alias
Name
Carnitine Palmitoyltransferase Ii Deficiency
Role
alias
Name
Cerebrohepatorenal Syndrome
Role
alias
Name
Classic Refsum Disease
Role
alias
Name
D-Bifunctional Protein Deficiency
Role
alias
Name
DEAFNESS, AUTOSOMAL RECESSIVE 81, FORMERLY
Role
alias
Name
DFNB81, FORMERLY
Role
alias
Name
Disorders of Fatty-Acid Metabolism
Role
alias
Name
GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS
Role
alias
Name
HEREDITARY MOTOR AND SENSORY NEUROPATHY IV
Role
alias
Name
HEREDOPATHIA ATACTICA POLYNEURITIFORMIS
Role
alias
Name
HMSN IV
Role
alias
Name
HMSN4
Role
alias
Name
Hereditary Motor And Sensory Neuropathy Type 4
Role
alias
Name
Infantile Refsum Disease
Role
alias
Name
NALD
Role
alias
Name
OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS
Role
alias
Name
PBD11B
Role
alias
Name
PBD2A
Role
alias
Name
PBD2B
Role
alias
Name
PBD3B
Role
alias
Name
PBD4B
Role
alias
Name
PBD5B
Role
alias
Name
PBD6A
Role
alias
Name
PBD7A
Role
alias
Name
PBD8A
Role
alias
Name
PBD8B
Role
alias
Name
PBD9B
Role
alias
Name
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 2
Role
alias
Name
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 9
Role
alias
Name
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP B
Role
alias
Name
PEROXISOME BIOGENESIS DISORDER, PEX7-RELATED, ATYPICAL
Role
alias
Name
PHYTANIC ACID OXIDASE DEFICIENCY
Role
alias
Name
PRLTS1
Role
alias
Name
PRLTS2
Role
alias
Name
PRLTS3
Role
alias
Name
PRLTS4
Role
alias
Name
Peroxisomal Bifunctional Enzyme Deficiency
Role
alias
Name
Peroxisomal Disease
Role
alias
Name
Peroxisome Biogenesis Disorder 11A
Role
alias
Name
Peroxisome Biogenesis Disorder 12A
Role
alias
Name
Peroxisome Biogenesis Disorder 1A
Role
alias
Name
Peroxisome Biogenesis Disorder 2A
Role
alias
Name
Peroxisome Biogenesis Disorder 6A
Role
alias
Name
Peroxisome Biogenesis Disorder 7A
Role
alias
Name
Peroxisome Biogenesis Disorder 8A
Role
alias
Name
Perrault Syndrome
Role
alias
Name
Phytanic-CoA Hydroxylase Deficiency
Role
alias
Name
Refsum Disease, Infantile
Role
alias
Name
Refsum'S Disease
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS002582HBDIS003164HBDIS006390HBDIS007252HBDIS007253HBDIS007254HBDIS007255HBDIS008076HBDIS008094HBDIS010609HBDIS011375HBDIS011425HBDIS011426HBDIS011427HBDIS014903HBDIS015018HBDIS015182HBDIS015183HBDIS015184HBDIS016636HBDIS018071HBDIS018095HBDIS018239HBDIS018300HBDIS019797HBDIS021622HBDIS021654HBDIS021694HBDIS021695HBDIS021698HBDIS021803HBDIS021808HBDIS021809HBDIS021813HBDIS021814HBDIS021823HBDIS021923HBDIS022278HBDIS022319HBDIS026679HBDIS027295HBDIS027775HBDIS029039HBDIS029040HBDIS029175HBDIS029409HBDIS029411HBDIS029414HBDIS029539
Me Sh
D012035D015211D018901D052919
Omim
202370214100214110233400255110255120261515264470266500266510600649601539608836614129614863614867614870614872614876614877614879614883614885614886614926615300617370
Umls
C0034960C0043459C0282525C0282527C0282528C0342788C0342790C0342871C0685838C1829703C1833508C1833511C1833518C1838299C1838300C1849678C1863998C1863999C1864399C1865803C1865804C1866259C1866260C1866351C1866352C2749345C2749346C2751532C3539168C3542026C3550234C3550273C3550274C3550693C3553937C3553947C3553950C3553959C3553960C3554000C3554001C3554002C3554105C3808414C3809105C3888385
Icd10
E71.3E71.5E71.50E71.510G60.1
Med Dra
10038275
Sym Map
SMDE00111SMDE00136SMDE00326SMDE00352SMDE00565SMDE00583SMDE00603SMDE01247SMDE01280SMDE01320SMDE01354SMDE01459SMDE01913SMDE02112SMDE02310SMDE02371SMDE02560SMDE02706SMDE02727SMDE02735SMDE03224SMDE03591SMDE03733SMDE03778SMDE04061SMDE04146SMDE04235SMDE04240SMDE04712SMDE04883SMDE06787SMDE12098SMDE12099SMDE12764SMDE12765
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0034960C0043459C0268634C0282525C0282526C0282527C0282528C0342790C0342870C0685838C0751594C0751708C0751709C0751710C1720802C1829703C1833508C1833511C1833518C1849678C1863999C1864399C1865803C1866260C1866351C1866352C2749345C2749346C3539168C3542026C3550234C3550273C3550693C3553937C3553947C3553950C3553959C3553960C3554000C3554001C3554002C3554105C3658299C3808414C3809105C3888385C4479254C4551721C4721541
Orphanet
15615822830222830522830829713570144772773912
Umls Sty
T019T046T047
Me Sh Class
C05C06C09C10C12C13C16C18C19C23
Etcm Disease
Carnitine Deficiency, Systemic PrimaryCarnitine Palmitoyltransferase Ii Deficiency, InfantileCarnitine Palmitoyltransferase Ii Deficiency, Lethal NeonatalCarnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Tcmbank Disease
1018110199110501121511895126161382715034150951510415621791317973188461936819551989620682216142322223405240092434224416245482543126798286412937293722985630335306173075930818345939794967859904991169978
Itcmdb Generated
ITX-DISEASE-058C1DCBFEFDITX-DISEASE-17C8E89EDE85ITX-DISEASE-2040B760B4CEITX-DISEASE-3EB61F70519BITX-DISEASE-4491DD2CB742ITX-DISEASE-585741B4EB6DITX-DISEASE-5C5ED3A2C80FITX-DISEASE-6A6DBF53D3E5ITX-DISEASE-7ACA8FCFC7FFITX-DISEASE-7B617D555E31ITX-DISEASE-7FB16A9BC960ITX-DISEASE-936C146B2DD6ITX-DISEASE-B9B37E108414ITX-DISEASE-C6482848DB28ITX-DISEASE-D55D82C1A545ITX-DISEASE-DB4E42792C83ITX-DISEASE-F96088385BE3ITX-DISEASE-FC823C354317
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Carnitine Deficiency, Systemic Primary Details pageDisease Carnitine Palmitoyltransferase Ii Deficiency, Infantile Details pageDisease Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal Details pageDisease Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced Details page
Do Class Name
disease of metabolism; genetic diseasegenetic disease
Disease Type
diseasegroupphenotype
Do Disease Class
genetic diseasegenetic disease; disease of metabolism
Umls Disease Type
Disease or SyndromeDisease or Syndrome; Congenital AbnormalityPathologic Function
Basic Information
Disease Name
Carnitine Deficiency, Systemic Primary
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Name
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Name
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Name
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Definition
3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20 Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characteriJABL99:Ovarian dysgenesis in female homozygotes and facultative deafness in male and female homozygotes associated with delayed mental and physical development and other defects.NCI2016_02D:A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.|MSH2017_2016_08_12:An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES.NCI2016_02D:A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia.|MSH2017_2016_08_12:A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.NCI2016_02D:A rare autosomal recessive disorder characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy.|MSH2017_2016_08_12:An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.|CSP2006:autosomal recessive disorder of lipid metabolism in which deficiency of phytanic acid alpha-hydroxylase results in accumulation of phytanic acid; manifested chiefly by chronic polyneuritis, retinitis pigmentosa, cerebellar ataxia and elevation of protein in cerebrospinal fluid.NCI2016_02D:A rare, autosomal recessive inherited disorder of long-chain fatty-acid oxidation caused by mutations in the CPT2 gene. The disease includes three main types: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.NCI2016_02D:An autosomal recessive inherited disorder caused by mutations in the SLC22A5 gene. It is characterized by the presence of a defective protein called OCTN2 which is involved in the transportation of carnitine into the cells. This abnormality results in reduced energy production and accumulation of fatty acids in the tissues. Clinical manifestations of confusion, muscle weakness, hypoglycemia, encephalopathy and cardiomyopathy may be exacerbated during fasting.Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatalRefsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa (see this term) and possible neurological manifestaZellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and SymptomsDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesEndocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Digestive System Diseases; Male Urogenital DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
diseasegroupphenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or SyndromeDisease or Syndrome; Congenital AbnormalityPathologic Function