DiseaseID 2343
骨硬化症
disease
Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.
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: 5Symptom: 12Target: 24Links: 41
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 2343
- Core Entity Id
- 2639
- Source Entity Count
- 1
- Preferred Name
- Osteopetrosis
- Name Cn
- 骨硬化症
- Name Pinyin
- Gu Ying Hua Zheng
- Name En
- Osteopetrosis
- 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; Nutritional and Metabolic DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesImmune System Diseases; Hemic and Lymphatic Diseases; Musculoskeletal DiseasesMusculoskeletal Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic disease
- Hpo Class
- Abnormality of metabolism/homeostasis; Abnormality of the genitourinary systemAbnormality of the skeletal system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital DiseasesMusculoskeletal DiseasesMusculoskeletal Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasis; Abnormality of the genitourinary systemAbnormality of the skeletal system
- Do Class Name
- disease of anatomical entitygenetic disease; disease of anatomical entity
- Disease Definition
- Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Osteopetrosis
Role
preferred
Name
Congenital Osteopetrosis
Role
preferred
Name
Osteopetrosis, Autosomal Recessive 1
Role
preferred
Name
Osteopetrosis, Autosomal Recessive 4
Role
preferred
Name
Osteopetrosis, Autosomal Recessive 7
Role
preferred
Name
Osteopetrosis, Autosomal Recessive 8
Role
preferred
Name
Renal Tubular Acidosis
Role
preferred
Name
Renal Tubular Acidosis, Distal, Autosomal Recessive
Role
preferred
Name
Renal Tubular Acidosis, Distal, Autosomal Recessive, With Late-Onset Sensorineural Hearing Loss
Role
preferred
Name
Albers-Schonberg Disease, Autosomal Recessive
Role
preferred
Name
Autosomal Dominant Osteosclerosis, Worth Type
Role
preferred
Name
Autosomal Recessive Malignant Osteopetrosis
Role
preferred
Name
Distal Renal Tubular Acidosis
Role
preferred
Name
Idiopathic Infantile Hypercalcemia - Mild Form
Role
preferred
Name
Infantile Malignant Osteopetrosis
Role
preferred
Name
Osteopetrosis Autosomal Dominant Type 2
Role
preferred
Name
Osteopetrosis With Renal Tubular Acidosis
Role
preferred
Name
Osteopetrosis, Autosomal Dominant 2
Role
preferred
Name
Osteosclerosis
Role
preferred
Name
Renal Tubular Acidosis, Distal, Type 3
Role
preferred
Name
Renal Tubular Acidosis, Type II
Role
preferred
Name
Acidosis, Renal Tubular
Role
alias
Name
Albers-Schonberg Disease
Role
alias
Name
Autosomal Dominant Osteopetrosis 2
Role
alias
Name
Autosomal Recessive Distal Renal Tubular Acidosis
Role
alias
Name
Autosomal Recessive Osteopetrosis 1
Role
alias
Name
Autosomal Recessive Osteopetrosis 4
Role
alias
Name
Autosomal Recessive Osteopetrosis 7
Role
alias
Name
Autosomal Recessive Osteopetrosis 8
Role
alias
Name
Increased Bone Density
Role
alias
Name
Increased Bone Mineral Density
Role
alias
Name
MARBLE BONES, AUTOSOMAL RECESSIVE
Role
alias
Name
Marble Bone Disease
Role
alias
Name
OPTB1
Role
alias
Name
OPTB4
Role
alias
Name
OPTB7
Role
alias
Name
OPTB8
Role
alias
Name
OSTEOPETROSIS, INFANTILE MALIGNANT 1
Role
alias
Name
OSTEOPETROSIS, INFANTILE MALIGNANT 2
Role
alias
Name
OSTEOPETROSIS, OSTEOCLAST-POOR, WITH HYPOGAMMAGLOBULINEMIA
Role
alias
Name
Opta2
Role
alias
Name
Osteosclerosis of Bones
Role
alias
Name
Proximal Renal Tubular Acidosis
Role
alias
Name
Proximal Tubular Acidosis
Role
alias
Name
RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PRESERVED HEARING
Role
alias
Name
RTA, DISTAL, AUTOSOMAL RECESSIVE
Role
alias
Name
RTADR
Role
alias
Name
Renal Tubular Acidosis Iii
Role
alias
Name
Renal Tubular Acidosis, Distal, Autosomal Dominant
Role
alias
Name
Renal Tubular Acidosis, Proximal
Role
alias
Name
Renal Tubular Acidosis, Type I
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0001947HP:0002049HP:0008341HP:0011001HP:0011002
Herb
HBDIS000027HBDIS002225HBDIS002231HBDIS006311HBDIS009669HBDIS013474HBDIS014760HBDIS016615HBDIS018101HBDIS018733HBDIS019458HBDIS020952HBDIS021860HBDIS021912HBDIS028889HBDIS029015HBDIS030055
Me Sh
D000141D010022D010026
Omim
166600179800179830259700267200602722611490612301615085
Umls
C0001126C0029454C0029464C0432273C1318518C1849435C1850127C1864498C1864499C1969106C2676766C2931308C3179239C3554478C3645711
Icd10
N25.89Q78.2
Sym Map
SMDE00406SMDE00744SMDE02262SMDE02973SMDE02987SMDE03175SMDE03873SMDE04263SMDE04959SMDE07481SMDE11694SMDE11702SMDE12795SMDE12796
Do Class
DOID:630DOID:7
Dis Ge Net
C0001126C0029454C0029464C0268435C0475733C1318518C1704380C1849435C1850127C1864498C1864499C1969106C2676766C3179239C3554478C3645711C4551971
Orphanet
2785279053667
Umls Sty
T019T047
Hpo Class
HP:0000119HP:0000924HP:0001939
Me Sh Class
C05C09C10C12C13C15C16C18C20C23
Etcm Disease
Autosomal Recessive Malignant Osteopetrosis
Tcmbank Disease
12519143671753417970220842221222668231182397524894260772750428150334048567007543
Itcmdb Generated
ITX-DISEASE-086CBB0F2812ITX-DISEASE-0D5E9D9DEBE0ITX-DISEASE-1628D39ABB62ITX-DISEASE-52749F8A78A2ITX-DISEASE-6876E2F29057ITX-DISEASE-75A31BCAEEDAITX-DISEASE-BE25D3999225ITX-DISEASE-D66A4624710CITX-DISEASE-E46E027CD0CC
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Autosomal Recessive Malignant Osteopetrosis Details page
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary systemAbnormality of the skeletal system
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Hpo Disease Class
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary systemAbnormality of the skeletal system
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Basic Information
Disease Name
Autosomal Recessive Malignant Osteopetrosis
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Eye diseases;Immune diseases;Liver diseases;Nephrological diseases;Neuronal diseases
Disease Definition
Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.MSH2017_2016_08_12:An abnormal hardening or increased density of bone tissue.|HPO2016_07_04:An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. [HPO:probinson]|CSP2006:abnormal hardening or increased density of bone tissue.NCI2016_02D:A rare genetic disorder inherited in an autosomal dominant, autosomal recessive, or X-linked recessive pattern. In the majority of cases it is caused by mutations in the CLCN7, TCIRG1, or IKBKG genes. It is characterized by excessive bone formation due to the failure of osteoclasts to resorb bone. It manifests with deformities, fractures, hepatosplenomegaly, anemia, and extramedullary hematopoiesis.|MSH2017_2016_08_12:Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).|HPO2016_07_04:Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. [HPO:probinson]|CSP2006:excessive formation of dense trabecular bone leading to pathological fractures, osteitis, splenomegaly with infarct, anemia, and extramedullary hemopoiesis.NCI2016_NICHD_1602D:The inability of the kidneys to maintain acid-base homeostasis.|NCI2016_NCI-GLOSS_1602D:A rare disorder in which structures in the kidney that filter the blood are impaired, producing urine that is more acid than normal.|NCI2016_02D:The inability of the kidneys to maintain acid-base homeostasis.|MSH2017_2016_08_12:A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS.|HPO2016_07_04:Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. [HPO:probinson]|CSP2006:rare sometimes familial disorder of the renal tubule characterized by the inability to excrete urine of normal acidity; this leads to a hyperchloremic acidosis which is often associated with one or more secondary complications such as hypercalcinuria with nephrolithiasis and nephrocalcinosis, rickets, or osteomalacia and severe potassium depletion.Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcificationsWorth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not a
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesImmune System Diseases; Hemic and Lymphatic Diseases; Musculoskeletal DiseasesMusculoskeletal Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital DiseasesMusculoskeletal DiseasesMusculoskeletal Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome