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Items: 1 to 20 of 31

1.

Persistent Mullerian duct syndrome

The persistent mullerian duct syndrome is characterized by the persistence of mullerian derivatives, uterus and tubes, in otherwise normally virilized males (summary by Knebelmann et al., 1991). [from OMIM]

MedGen UID:
342367
Concept ID:
C1849930
Anatomical Abnormality
2.

Base Pairing

Interacting selectively and non-covalently with nucleic acid via hydrogen bonds between the bases of a gene product molecule and the bases of a target nucleic acid molecule. [GOC:krc] [from GO]

MedGen UID:
108706
Concept ID:
C0600436
Molecular Function
3.

Mullerian regression factor

A glycoprotein that causes regression of MULLERIAN DUCTS. It is produced by SERTOLI CELLS of the TESTES. In the absence of this hormone, the Mullerian ducts develop into structures of the female reproductive tract. In males, defects of this hormone result in persistent Mullerian duct, a form of MALE PSEUDOHERMAPHRODITISM. [from MeSH]

MedGen UID:
73364
Concept ID:
C0066928
Amino Acid, Peptide, or Protein; Hormone; Pharmacologic Substance
4.

Threonine

Amino acid with side chain -CH(OH)CH3. [from NCI_CRCH]

MedGen UID:
52734
Concept ID:
C0040005
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
5.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI_NCI-GLOSS]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
6.

Serine

Amino acid with side chain -CH2OH. [from NCI_CRCH]

MedGen UID:
11382
Concept ID:
C0036720
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
7.

Mode of transmission

The process by which an infection is transmitted to a person. [from NCI_NICHD]

MedGen UID:
731117
Concept ID:
C1443844
Finding
8.

Very low

MedGen UID:
617805
Concept ID:
C0442811
Finding
9.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
10.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
11.

Disease regression

Return to a former state; a subsidence of the symptoms of a disease process; in cancer, a decrease in the size of a tumor or in the extent of cancer in the body. [from NCI]

MedGen UID:
195771
Concept ID:
C0684320
Pathologic Function
12.

Autosomal recessive inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
13.

disease transmission

Transmission of disease from one individual to another. [from PSY]

MedGen UID:
66979
Concept ID:
C0242781
Pathologic Function
14.

Male Urogenital Diseases

Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE). [from MeSH]

MedGen UID:
318601
Concept ID:
C1720894
Disease or Syndrome
15.

Female Urogenital Diseases

Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE). [from MeSH]

MedGen UID:
318599
Concept ID:
C1720887
Disease or Syndrome
16.

Female Urogenital Diseases and Pregnancy Complications

Pathological processes of the female URINARY TRACT, the reproductive system (GENITALIA, FEMALE), and disorders related to PREGNANCY. [from MeSH]

MedGen UID:
318565
Concept ID:
C1720765
Disease or Syndrome
17.

Abnormality of the genitourinary system

The presence of any abnormality of the genitourinary system. [from HPO]

MedGen UID:
52948
Concept ID:
C0042063
Congenital Abnormality
18.

Disorders of Sex Development

disorder or perturbation of rate or processes of sexual maturation; includes abnormalities in sexual differentiation due to the presence or absence of genetic and endocrine factors; sex determining genes dictate the gonadal sex whereas the fetal testicular hormones determine the somatic sex during sex differentiation. [from CRISP]

MedGen UID:
20725
Concept ID:
C0036875
Congenital Abnormality
19.

Pseudohermaphroditism

Gonads of one sex are present, while the external genital organs resemble in whole or in part those of the opposite sex. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.) [from NCI_CDISC]

MedGen UID:
10991
Concept ID:
C0033804
Congenital Abnormality
20.

Gonadal Disorders

Pathological processes of the OVARIES or the TESTES. [from MeSH]

MedGen UID:
9074
Concept ID:
C0018050
Disease or Syndrome
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