ITCMDBv1
DiseaseID 5538

黏液性水肿

disease

Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid de

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Disease: 1Formula: 24Herb: 5Symptom: 12Target: 24Links: 65
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Record Fields

Scalar fields from the final disease record.

Disease Id
5538
Core Entity Id
62055
Source Entity Count
1
Preferred Name
Myxedema
Name Cn
黏液性水肿
Name Pinyin
Nian Ye Xing Shui Zhong
Name En
Myxedema
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Anatomical Abnormality
Disgenet Type
disease
Mesh Class
Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System DiseasesDigestive System Diseases; Neoplasms; Pathological Conditions, Signs and SymptomsEndocrine System DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Respiratory Tract DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and SymptomsFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Respiratory Tract DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms; Pathological Conditions, Signs and SymptomsMale Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy ComplicationsMale Urogenital Diseases; Female Urogenital Diseases and Pregnancy ComplicationsPathological Conditions, Signs and SymptomsSkin and Connective Tissue Diseases; Endocrine System Diseases
Do Class
disease of anatomical entitydisease of anatomical entity; genetic diseasedisease of anatomical entity; genetic disease; syndromegenetic diseasesyndrome; genetic disease
Hpo Class
Abnormality of the digestive systemAbnormality of the endocrine systemAbnormality of the genitourinary systemAbnormality of the nervous system; Abnormality of the endocrine system
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System DiseasesEndocrine System DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital DiseasesPathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Digestive System Diseases; NeoplasmsPathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital DiseasesSkin and Connective Tissue Diseases; Endocrine System Diseases
Hpo Class Name
Abnormality of the endocrine systemAbnormality of the endocrine system; Abnormality of the nervous systemAbnormality of the genitourinary system
Do Class Name
disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entitygenetic disease; disease of anatomical entity; syndromegenetic disease; syndrome
Disease Definition
Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid de
Version
v1
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Myxedema
Role
preferred
Name
Congenital Hypothyroidism
Role
preferred
Name
Congenital Myxedema
Role
preferred
Name
Cystic Kidney Diseases
Role
preferred
Name
Generalized Resistance To Thyroid Hormone
Role
preferred
Name
Hypothyroidism
Role
preferred
Name
Hypothyroidism Due To Tsh Receptor Mutations
Role
preferred
Name
Hypothyroidism, Central, And Testicular Enlargement
Role
preferred
Name
Hypothyroidism, Congenital, Due To Thyroid Dysgenesis
Role
preferred
Name
Hypothyroidism, Congenital, Nongoitrous, 1
Role
preferred
Name
Hypothyroidism, Congenital, Nongoitrous, 2
Role
preferred
Name
Hypothyroidism, Congenital, Nongoitrous, 3
Role
preferred
Name
Hypothyroidism, Congenital, Nongoitrous, 4
Role
preferred
Name
Hypothyroidism, Congenital, Nongoitrous, 6
Role
preferred
Name
Meckel Syndrome, Type 1
Role
preferred
Name
Meckel Syndrome, Type 11
Role
preferred
Name
Meckel Syndrome, Type 2
Role
preferred
Name
Meckel Syndrome, Type 3
Role
preferred
Name
Meckel Syndrome, Type 4
Role
preferred
Name
Meckel Syndrome, Type 5
Role
preferred
Name
Meckel Syndrome, Type 8
Role
preferred
Name
Meckel Syndrome, Type 9
Role
preferred
Name
Peripheral Resistance To Thyroid Hormones
Role
preferred
Name
Polycystic Kidney Disease 1
Role
preferred
Name
Polycystic Kidney Diseases
Role
preferred
Name
Polycystic Kidney, Autosomal Dominant
Role
preferred
Name
Polycystic Liver Disease 1
Role
preferred
Name
Secondary Hypothyroidism
Role
preferred
Name
Thyroid Agenesis
Role
preferred
Name
Thyroid Dysgenesis
Role
preferred
Name
Thyroid Dyshormonogenesis 1
Role
preferred
Name
Thyroid Dyshormonogenesis 3
Role
preferred
Name
Thyroid Dyshormonogenesis 5
Role
preferred
Name
Thyroid Dyshormonogenesis 6
Role
preferred
Name
Thyroid Hormone Resistance Syndrome
Role
preferred
Name
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Role
preferred
Name
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Role
preferred
Name
Athyreosis
Role
preferred
Name
Bilateral Multicystic Dysplastic Kidneys
Role
preferred
Name
Central Hypothyroidism
Role
preferred
Name
Congenital Atrophy of Thyroid
Role
preferred
Name
Congenital Cystic Kidney Disease
Role
preferred
Name
Congenital Goiter
Role
preferred
Name
Congenital Hypothyroidism Without Goiter
Role
preferred
Name
Cystic Kidney
Role
preferred
Name
Cystic Liver Disease
Role
preferred
Name
Deficiency of Iodide Peroxidase (Disorder)
Role
preferred
Name
Endemic Cretinism
Role
preferred
Name
Familial Thyroid Dyshormonogenesis
Role
preferred
Name
Generalized Thyroid Hormone Resistance
Role
preferred
Name
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
Role
preferred
Name
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
Role
preferred
Name
Isolated Polycystic Liver Disease
Role
preferred
Name
Isolated Thyroid-Stimulating Hormone Deficiency
Role
preferred
Name
JOUBERT SYNDROME 29
Role
preferred
Name
MECKEL SYNDROME 13
Role
preferred
Name
Meckel Syndrome
Role
preferred
Name
Meckel Syndrome Type 1
Role
preferred
Name
Meckel Syndrome Type 3
Role
preferred
Name
Meckel Syndrome, Type 6 (Disorder)
Role
preferred
Name
Meckel-Gruber Syndrome
Role
preferred
Name
Multicystic Dysplastic Kidney
Role
preferred
Name
Myxedema, Congenital
Role
preferred
Name
POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS
Role
preferred
Name
Polycystic Kidney - Body Part
Role
preferred
Name
Polycystic Kidney Disease, Type 2
Role
preferred
Name
Polycystic Kidney, Type 1 Autosomal Dominant Disease
Role
preferred
Name
Primary Hypothyroidism
Role
preferred
Name
Renal Cyst
Role
preferred
Name
Thyroid Ectopia
Role
preferred
Name
Thyroid Hypoplasia
Role
preferred
Name
Thyrotropin Deficiency, Isolated
Role
preferred
Name
Thyrotropin, Biologically Inactive
Role
preferred
Name
Unilateral Multicystic Dysplastic Kidney
Role
preferred
Name
APKD
Role
alias
Name
APKD1
Role
alias
Name
ATHYREOTIC HYPOTHYROIDISM
Role
alias
Name
Adpkd
Role
alias
Name
Autosomal Dominant Polycystic Kidney Disease
Role
alias
Name
CHNG1
Role
alias
Name
CHNG2
Role
alias
Name
CHNG4
Role
alias
Name
CHNG6
Role
alias
Name
CHTE
Role
alias
Name
Congenital Hypothyroidism Without Goitre
Role
alias
Name
Congenital Hypothyroidism, Nongoitrous, 3
Role
alias
Name
Congenital Nongoitrous Hypothyroidism
Role
alias
Name
Congenital Nongoitrous Hypothyroidism 1
Role
alias
Name
Congenital Nongoitrous Hypothyroidism 2
Role
alias
Name
Congenital Nongoitrous Hypothyroidism 3
Role
alias
Name
Congenital Nongoitrous Hypothyroidism 4
Role
alias
Name
Congenital Nongoitrous Hypothyroidism 5
Role
alias
Name
Congenital Nongoitrous Hypothyroidism 6
Role
alias
Name
Cystic Disease of Liver
Role
alias
Name
Cystic Kidney Disease
Role
alias
Name
Cystic Kidney Disease, Unspecified
Role
alias
Name
Cystic Kidneys
Role
alias
Name
DYSENCEPHALIA SPLANCHNOCYSTICA
Role
alias
Name
Deafness-thyroid Hormone Resistance Syndrome
Role
alias
Name
End-Organ Unresponsiveness To Thyroid Hormone
Role
alias
Name
Enlarged Polycystic Kidneys
Role
alias
Name
Fetal Iodine Deficiency Disorder
Role
alias
Name
GRTH
Role
alias
Name
GRUBER SYNDROME
Role
alias
Name
GTHR
Role
alias
Name
HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES
Role
alias
Name
HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN
Role
alias
Name
HYPOTHYROIDISM, ATHYREOTIC
Role
alias
Name
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1
Role
alias
Name
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3
Role
alias
Name
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 5
Role
alias
Name
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 6
Role
alias
Name
HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE
Role
alias
Name
HYPOTHYROIDISM, NONAUTOIMMUNE
Role
alias
Name
Hypoplastic Thyroid
Role
alias
Name
Hypothyroidism, Central
Role
alias
Name
Hypothyroidism, Congenital
Role
alias
Name
Hypothyroidism, Congenital, Nongoitrous, 5
Role
alias
Name
Hypothyroidism, Unspecified
Role
alias
Name
IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT
Role
alias
Name
Igsf1 Deficiency Syndrome
Role
alias
Name
Iodide Peroxidase Deficiency
Role
alias
Name
Kidney Cyst
Role
alias
Name
Kidney Diseases, Cystic
Role
alias
Name
Kidney, Cystic
Role
alias
Name
Kidney, Polycystic
Role
alias
Name
Low T4
Role
alias
Name
MECKEL-GRUBER SYNDROME, TYPE 1
Role
alias
Name
MECKEL-GRUBER SYNDROME, TYPE 2
Role
alias
Name
MECKEL-GRUBER SYNDROME, TYPE 3
Role
alias
Name
MECKEL-GRUBER SYNDROME, TYPE 4
Role
alias
Name
MECKEL-LIKE CEREBRORENODIGITAL SYNDROME
Role
alias
Name
MES
Role
alias
Name
MKS
Role
alias
Name
MKS1
Role
alias
Name
MKS11
Role
alias
Name
MKS2
Role
alias
Name
MKS3
Role
alias
Name
MKS4
Role
alias
Name
MKS5
Role
alias
Name
MKS8
Role
alias
Name
MKS9
Role
alias
Name
Meckel Syndrome 1
Role
alias
Name
Meckel Syndrome 2
Role
alias
Name
Meckel Syndrome 3
Role
alias
Name
Meckel Syndrome 4
Role
alias
Name
Meckel Syndrome 5
Role
alias
Name
Meckel Syndrome 6
Role
alias
Name
Meckel Syndrome 8
Role
alias
Name
Meckel Syndrome Type 2
Role
alias
Name
Meckel Syndrome, Type 6
Role
alias
Name
Multicystic Kidney Dysplasia
Role
alias
Name
Multicystic Kidneys
Role
alias
Name
Multicystic Renal Dysplasia
Role
alias
Name
PCLD1
Role
alias
Name
PITUITARY CRETINISM
Role
alias
Name
PKD1
Role
alias
Name
POLYCYSTIC KIDNEY DISEASE, ADULT
Role
alias
Name
POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I
Role
alias
Name
POTTER TYPE III POLYCYSTIC KIDNEY DISEASE
Role
alias
Name
Pituitary Hypothyroidism
Role
alias
Name
Polycystic Kidney Disease
Role
alias
Name
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Role
alias
Name
Polycystic Kidney Disease 2
Role
alias
Name
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Role
alias
Name
Polycystic Kidney Disease, Adult, Type Ii
Role
alias
Name
Polycystic Kidney Dysplasia
Role
alias
Name
Polycystic Kidney, Adult Type
Role
alias
Name
Polycystic Kidney, Unspecified
Role
alias
Name
Polycystic Kidneys
Role
alias
Name
Polycystic Liver Disease
Role
alias
Name
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Role
alias
Name
Potter Type Iii Polycystic Kidney Disease, Formerly
Role
alias
Name
RESISTANCE TO THYROTROPIN
Role
alias
Name
RTSH
Role
alias
Name
Refetoff Syndrome
Role
alias
Name
Renal Cysts
Role
alias
Name
Resistance To Thyroid Hormone
Role
alias
Name
TDH1
Role
alias
Name
TDH3
Role
alias
Name
TDH5
Role
alias
Name
TDH6
Role
alias
Name
THYROID HORMONE UNRESPONSIVENESS
Role
alias
Name
THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1
Role
alias
Name
THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3
Role
alias
Name
THYROID HORMONOGENESIS, GENETIC DEFECT IN, 5
Role
alias
Name
THYROID HORMONOGENESIS, GENETIC DEFECT IN, 6
Role
alias
Name
THYROID, ECTOPIC
Role
alias
Name
THYROID-STIMULATING HORMONE DEFICIENCY
Role
alias
Name
THYROID-STIMULATING HORMONE, RESISTANCE TO
Role
alias
Name
THYROTROPIN RESISTANCE
Role
alias
Name
TSH DEFICIENCY
Role
alias
Name
TSH RESISTANCE
Role
alias
Name
Thyroid Dyshormonogenesis 2A
Role
alias
Name
Thyroid Dysplasia
Role
alias
Name
Thyroid Hormone Receptor Defect
Role
alias
Name
Thyroid Hormone Resistance
Role
alias
Name
Thyroid Stimulating Hormone Deficiency
Role
alias
Name
Thyrotropin Deficiency
Role
alias
Name
Tsh Deficient Hypothyroidism
Role
alias
Name
Underactive Thyroid
Role
alias
Name
Underactive Thyroid Gland From Birth
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Hpo
HP:0000003HP:0000107HP:0000113HP:0000821HP:0000832HP:0000851HP:0002930HP:0005990HP:0006706HP:0008188HP:0008191HP:0008245HP:0008251HP:0011787
Herb
HBDIS000682HBDIS001505HBDIS001622HBDIS001623HBDIS002042HBDIS003290HBDIS003556HBDIS005753HBDIS006665HBDIS006669HBDIS007315HBDIS007941HBDIS007943HBDIS007951HBDIS007953HBDIS007956HBDIS008470HBDIS011048HBDIS012358HBDIS013255HBDIS014580HBDIS014602HBDIS014603HBDIS014618HBDIS014693HBDIS016305HBDIS016344HBDIS016512HBDIS016515HBDIS018501HBDIS018720HBDIS018808HBDIS019276HBDIS019922HBDIS020459HBDIS020488HBDIS020489HBDIS020611HBDIS021273HBDIS021353HBDIS021458HBDIS021462HBDIS021709HBDIS021946HBDIS022089HBDIS022097HBDIS022704HBDIS025523HBDIS025862HBDIS025887HBDIS026329HBDIS026423HBDIS027051HBDIS027052HBDIS027266HBDIS027829HBDIS028735HBDIS029013HBDIS029138HBDIS029479HBDIS029527
Me Sh
D003409D007037D007690D009230D016891D018382D021782D050033D052177
Omim
173900174050188570218700225250228355249000255900274300274400274500274700274900275100275200300888603194607200607361611134611561612284613095613885614209614450615397617004617562
Umls
C0010308C0020676C0022680C0027145C0085413C0151516C0158683C0265215C0266283C0271789C0342194C0342196C0342200C0749420C1563716C1578691C1691228C1846357C1846632C1848794C1848805C1855794C1864148C1868148C1869118C1969052C1970161C1970162C2937288C2940785C2940786C3149841C3280155C3280817C3489796C3493776C3550963C3665349C3714506C3714581C3809352C3836857C4082174C4310613
Icd10
E00.1E03.0E03.1E03.9E07.8Q44.6Q61Q61.2Q61.3Q61.9
Med Dra
100104271004883410065938
Sym Map
SMDE00463SMDE00491SMDE00493SMDE00567SMDE00857SMDE01028SMDE01069SMDE01080SMDE01211SMDE01446SMDE01490SMDE01824SMDE01903SMDE02242SMDE02522SMDE02556SMDE02802SMDE02893SMDE03157SMDE03375SMDE03606SMDE03644SMDE03753SMDE03791SMDE03808SMDE03990SMDE04029SMDE04131SMDE04140SMDE04168SMDE04204SMDE04402SMDE07462SMDE07477SMDE07707SMDE08244SMDE09730SMDE09731SMDE09732SMDE11137SMDE11269SMDE12273SMDE12274SMDE13021SMDE13887SMDE13891SMDE13893
Do Class
DOID:225DOID:630DOID:7
Dis Ge Net
C0010308C0020676C0022679C0022680C0027145C0085413C0151516C0265215C0271789C0271801C0311245C0342151C0342154C0342194C0342196C0342200C0349476C0749420C0887850C1291299C1563716C1567426C1567427C1567435C1578691C1691228C1846357C1846632C1848794C1848805C1864148C1869118C1969052C1970161C2673630C2676790C2751306C2937288C2940785C2940786C3149841C3280155C3280817C3489796C3493776C3550963C3665349C3714506C3714581C3809352C3836857C3887499C4082174C4255088C4273748C4310769C4316995C4539714C4539715C4551631C4722330
Orphanet
12262924322156490673906749571295713957169572097927
Umls Sty
T019T047T049T190
Hpo Class
HP:0000119HP:0000707HP:0000818HP:0025031
Me Sh Class
C04C05C06C08C09C10C11C12C13C16C17C19C23
Etcm Disease
AthyreosisCongenital HypothyroidismFamilial Thyroid DyshormonogenesisHypothyroidism, Congenital, Nongoitrous, 1Hypothyroidism, Congenital, Nongoitrous, 2Hypothyroidism, Congenital, Nongoitrous, 3Hypothyroidism, Congenital, Nongoitrous, 4Hypothyroidism, Congenital, Nongoitrous, 6Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft PalateMeckel Syndrome 13Meckel Syndrome, Type 1Meckel Syndrome, Type 11Meckel Syndrome, Type 2Meckel Syndrome, Type 3Meckel Syndrome, Type 4Meckel Syndrome, Type 5Meckel Syndrome, Type 8Meckel Syndrome, Type 9
Tcmbank Disease
1058410594109691111184012062123141305913231132841470114833151815315505160901613216343166171743017726188621931202612079220910213032150621624223832358224226245972520225286255272581261772623626540274228239294932968030237302623111831582319863214932458336934614855495060528053875677604164137226742
Itcmdb Generated
ITX-DISEASE-00DB558FCE3BITX-DISEASE-024542A6D980ITX-DISEASE-0874DC202467ITX-DISEASE-0BEBD636EF28ITX-DISEASE-1E361118C540ITX-DISEASE-332D43A6F8B4ITX-DISEASE-3494A0AFDC9EITX-DISEASE-351E03FED9AAITX-DISEASE-3662BE3D2640ITX-DISEASE-3853EC4C2B46ITX-DISEASE-3890A2ABF55DITX-DISEASE-3A3BC2766B41ITX-DISEASE-4DFE0F01F229ITX-DISEASE-5029F2A37D5DITX-DISEASE-5B783B00AAA7ITX-DISEASE-66EF74839078ITX-DISEASE-762ED5DF8D72ITX-DISEASE-7905D27BAA2CITX-DISEASE-7BDF3D7AADD8ITX-DISEASE-83FF4F4DC177ITX-DISEASE-88C81310F415ITX-DISEASE-932756DBD5ABITX-DISEASE-9BEE0EFA3D6DITX-DISEASE-9EC1B6F2880AITX-DISEASE-9F7CC853CD01ITX-DISEASE-C848C4CEB616ITX-DISEASE-CB3C1BB6191BITX-DISEASE-D0B1D6E9D9E7ITX-DISEASE-DA642200F083ITX-DISEASE-EA44338EF48DITX-DISEASE-EEF5FF18F14D

Attributes

Merged source attributes and domain-specific metadata.

Version
v1v1,v2v2
Suppress
0
Page Title
Disease Athyreosis Details pageDisease Congenital Hypothyroidism Details pageDisease Familial Thyroid Dyshormonogenesis Details pageDisease Hypothyroidism, Congenital, Nongoitrous, 1 Details pageDisease Hypothyroidism, Congenital, Nongoitrous, 2 Details pageDisease Hypothyroidism, Congenital, Nongoitrous, 3 Details pageDisease Hypothyroidism, Congenital, Nongoitrous, 4 Details pageDisease Hypothyroidism, Congenital, Nongoitrous, 6 Details pageDisease Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate Details pageDisease Meckel Syndrome 13 Details pageDisease Meckel Syndrome, Type 1 Details pageDisease Meckel Syndrome, Type 11 Details pageDisease Meckel Syndrome, Type 2 Details pageDisease Meckel Syndrome, Type 3 Details pageDisease Meckel Syndrome, Type 4 Details pageDisease Meckel Syndrome, Type 5 Details pageDisease Meckel Syndrome, Type 8 Details pageDisease Meckel Syndrome, Type 9 Details page
Do Class Name
disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entitygenetic disease; disease of anatomical entity; syndromegenetic disease; syndrome
Disease Type
diseasegroupphenotype
Hpo Class Name
Abnormality of the endocrine systemAbnormality of the endocrine system; Abnormality of the nervous systemAbnormality of the genitourinary system
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic diseasedisease of anatomical entity; genetic disease; syndromegenetic diseasesyndrome; genetic disease
Hpo Disease Class
Abnormality of the digestive systemAbnormality of the endocrine systemAbnormality of the genitourinary systemAbnormality of the nervous system; Abnormality of the endocrine system
Umls Disease Type
Anatomical AbnormalityCell or Molecular DysfunctionCongenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital Abnormality
Basic Information
Disease Name
Athyreosis
Global Category
Rare diseases
Anatomical Category
Endocrine diseases
Disease Name
Congenital Hypothyroidism
Global Category
Metabolic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Immune diseases;Neuronal diseases
Disease Name
Familial Thyroid Dyshormonogenesis
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Neuronal diseases
Disease Name
Hypothyroidism, Congenital, Nongoitrous, 1
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Neuronal diseases
Disease Name
Hypothyroidism, Congenital, Nongoitrous, 2
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Neuronal diseases
Disease Name
Hypothyroidism, Congenital, Nongoitrous, 3
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Neuronal diseases
Disease Name
Hypothyroidism, Congenital, Nongoitrous, 4
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Neuronal diseases
Disease Name
Hypothyroidism, Congenital, Nongoitrous, 6
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Neuronal diseases
Disease Name
Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Endocrine diseases
Disease Name
Meckel Syndrome 13
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Eye diseases;Liver diseases;Nephrological diseases;Neuronal diseases
Disease Name
Meckel Syndrome, Type 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Eye diseases;Liver diseases;Nephrological diseases;Neuronal diseases
Disease Name
Meckel Syndrome, Type 11
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Eye diseases;Liver diseases;Nephrological diseases;Neuronal diseases
Disease Name
Meckel Syndrome, Type 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Eye diseases;Liver diseases;Nephrological diseases;Neuronal diseases
Disease Name
Meckel Syndrome, Type 3
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Eye diseases;Liver diseases;Nephrological diseases;Neuronal diseases
Disease Name
Meckel Syndrome, Type 4
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Eye diseases;Liver diseases;Nephrological diseases;Neuronal diseases
Disease Name
Meckel Syndrome, Type 5
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Eye diseases;Liver diseases;Nephrological diseases;Neuronal diseases
Disease Name
Meckel Syndrome, Type 8
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Eye diseases;Liver diseases;Nephrological diseases;Neuronal diseases
Disease Name
Meckel Syndrome, Type 9
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Eye diseases;Liver diseases;Nephrological diseases;Neuronal diseases
Disease Definition
Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deFamilial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors oHPO2016_07_04:A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. [HPO:probinson]HPO2016_07_04:The congenital absence of the thyroid gland. [HPO:probinson, pmid:2918525]Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from bIsolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant pIsolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low leMeckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele (see this term), large polycysticNCI2016_02D:A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance.|MSH2017_2016_08_12:A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips.|CSP2006:condition characterized by a dry, waxy type of swelling with abnormal deposits of mucin in the skin and other tissues; it is produced by a functional insufficiency of the thyroid gland, resulting in deficiency of thyroid hormone.NCI2016_02D:A congenital condition characterized by hypoplasia, absence, or ectopic position of the thyroid gland. It is manifested with congenital hypoparathyroidism.|MSH2017_2016_08_12:Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM.NCI2016_02D:A deficiency of thyroid hormone present at birth. The etiology can be genetic or environmental, or a combination of both; treatment is based on severity and causality.|MSH2017_2016_08_12:A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.|HPO2016_07_04:A type of hypothyroidism with congenital onset. [HPO:probinson]|CSP2006:condition due to congenital lack of thyroid hormone, marked by arrested physical and mental development, dystrophy of the bones and soft parts, and lowered basal metabolism; it is the congenital form of thyroid deficiency, while myxedema is the acquired form.NCI2016_02D:A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.|MSH2017_2016_08_12:An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels.|HPO2016_07_04:Thyroid hormone resistance because of a defect in the thyroid hormone receptor. [DDD:spark]NCI2016_02D:Severely reduced physical and mental growth associated with pyramidal and extrapyramidal signs and symptoms, due to dietary iodine deficiency.NCI2016_NICHD_1602D:A congenital or acquired kidney disorder characterized by the presence of renal cysts.|NCI2016_02D:A congenital or acquired kidney disorder characterized by the presence of renal cysts.|MSH2017_2016_08_12:A heterogeneous group of hereditary and acquired disorders in which the KIDNEY contains one or more CYSTS unilaterally or bilaterally (KIDNEY, CYSTIC).NCI2016_NICHD_1602D:Abnormal development of the kidney that is characterized by atretic ureter, multiple cysts of different sizes that are separated by dysplastic parenchyma, and complete lack of function.|NCI2016_02D:Abnormal development of the kidney that is characterized by atretic ureter, multiple cysts of different sizes that are separated by dysplastic parenchyma, and complete lack of function.(NICHD)|MSH2017_2016_08_12:A nongenetic defect due to malformation of the KIDNEY which appears as a bunch of grapes with multiple renal cysts but lacking the normal renal bean shape, and the collection drainage system. This condition can be detected in-utero with ULTRASONOGRAPHY.|HPO2016_07_04:Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. [HPO:curators]NCI2016_NICHD_1602D:Abnormally low levels of thyroid hormone.|NCI2016_NCI-GLOSS_1602D:Too little thyroid hormone. Symptoms include weight gain, constipation, dry skin, and sensitivity to the cold.|NCI2016_CTCAE_1602D:A disorder characterized by a decrease in production of thyroid hormone by the thyroid gland.|NCI2016_02D:Abnormally low levels of thyroid hormone.(NICHD)|MSH2017_2016_08_12:A syndrome that results from abnormally low secretion of THYROID HORMONES from the THYROID GLAND, leading to a decrease in BASAL METABOLIC RATE. In its most severe form, there is accumulation of MUCOPOLYSACCHARIDES in the SKIN and EDEMA, known as MYXEDEMA.|MEDLINEPLUS_20151021:<p>Your <a href='https://www.nlm.nih.gov/medlineplus/thyroiddiseases.html'>thyroid</a> is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. If your thyroid gland is not active enough, it does not make enough thyroid hormone to meet your body's needs. This condition is hypothyroidism.</p> <p>Hypothyroidism is more common in women, people with other thyroid problems, and those over 60 years old. Hashimoto's disease, an autoimmune disorder, is the most common cause. Other causes include thyroid nodules, thyroiditis, congenital hypothyroidism, surgical removal of part or all of the thyroid, radiation treatment of the thyroid, and some medicines.</p> <p>The symptoms can vary from person to person. They may include</p> <ul> <li>Fatigue</li> <li>Weight gain</li> <li>A puffy face</li> <li>Cold intolerance</li> <li>Joint and muscle pain</li> <li>Constipation</li> <li>Dry skin</li> <li>Dry, thinning hair</li> <li>Decreased sweating</li> <li>Heavy or irregular menstrual periods and fertility problems</li> <li>Depression</li> <li>Slowed heart rate</li> </ul> <p>To diagnose hypothyroidism, your doctor will look at your symptoms and blood tests. Treatment is with synthetic thyroid hormone, taken every day.</p> <p >NIH: National Institute of Diabetes and Digestive and Kidney Diseases</p>|HPO2016_07_04:Deficiency of thyroid hormone. [HPO:probinson]|CSP2006:deficiency of thyroid gland activity; characterized by decreased basal metabolic rate, fatigue and lethargy, sensitivity to cold, and menstrual disturbances; untreated it progresses to myxedema; in infants severe hypothyroidism leads to cretinism.NCI2016_NICHD_1602D:An inherited form of kidney disease characterized by multiple renal cysts.|NCI2016_02D:A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.|MSH2017_2016_08_12:Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance.|HPO2016_07_04:The presence of multiple cysts in both kidneys. [HPO:probinson]|CSP2006:hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed cysts within the kidney; there is an autosomal recessive form appearing in childhood and a later appearing autosomal dominant form; a similar acquired disease sometimes accompanies end-stage renal disease.NCI2016_NICHD_1602D:Polycystic kidney disease inherited in an autosomal dominant pattern.|NCI2016_02D:Polycystic kidney disease inherited in an autosomal dominant pattern. Symptoms usually appear at middle age and include abdominal pain, hematuria and high blood pressure. Patients may develop brain aneurysms and liver cysts.|MSH2017_2016_08_12:Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function.Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanentThyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a per
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System DiseasesDigestive System Diseases; Neoplasms; Pathological Conditions, Signs and SymptomsEndocrine System DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Respiratory Tract DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and SymptomsFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Respiratory Tract DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms; Pathological Conditions, Signs and SymptomsMale Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy ComplicationsMale Urogenital Diseases; Female Urogenital Diseases and Pregnancy ComplicationsPathological Conditions, Signs and SymptomsSkin and Connective Tissue Diseases; Endocrine System Diseases
Dis Ge Net Disease Type
diseasegroupphenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System DiseasesEndocrine System DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital DiseasesPathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Digestive System Diseases; NeoplasmsPathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital DiseasesSkin and Connective Tissue Diseases; Endocrine System Diseases
Umls Semantic Type Name
Anatomical AbnormalityCell or Molecular DysfunctionCongenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital Abnormality