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Items: 18

1.

Cleft palate

MedGen UID:
3107
Concept ID:
C0008925
Congenital Abnormality
2.

Cleft palate

MedGen UID:
776579
Concept ID:
C2240378
Finding
3.

Cleft secondary palate

MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
4.

Cleft palate, isolated

Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see 119530). Dominantly inherited cleft soft palate in 4 generations has been reported (Jenkins and Stady, 1980); see 119570. [from OMIM]

MedGen UID:
332392
Concept ID:
C1837218
Congenital Abnormality
5.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
6.

Calcium

A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes. [from MeSH]

MedGen UID:
710
Concept ID:
C0006675
Biologically Active Substance; Element, Ion, or Isotope; Pharmacologic Substance
7.

X-linked inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [from HPO]

MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
8.

Maxillofacial Abnormalities

Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones. [from MeSH]

MedGen UID:
101209
Concept ID:
C0524948
Congenital Abnormality
9.

Craniofacial Abnormalities

Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones. [from MeSH]

MedGen UID:
91281
Concept ID:
C0376634
Congenital Abnormality
10.

Stomatognathic System Abnormalities

Congenital structural abnormalities of the mouth and jaws, including the dentition. [from MeSH]

MedGen UID:
67053
Concept ID:
C0243057
Congenital Abnormality
11.

Congenital anomaly of musculoskeletal system

An abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
57466
Concept ID:
C0151491
Congenital Abnormality
12.

Disorder of jaw

Diseases involving the JAW. [from MeSH]

MedGen UID:
43990
Concept ID:
C0022362
Disease or Syndrome
13.

Stomatognathic Diseases

General or unspecified diseases of the stomatognathic system, comprising the mouth, teeth, jaws, and pharynx. [from MeSH]

MedGen UID:
20960
Concept ID:
C0038368
Disease or Syndrome
14.

Jaw Abnormalities

Congenital absence of or defects in structures of the jaw. [from MeSH]

MedGen UID:
9591
Concept ID:
C0022360
Congenital Abnormality
15.

Disorder of musculoskeletal system

A category of diseases that involve muscles and bones. [from NCI]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
16.

Disease of mouth

A non-neoplastic or neoplastic disorder affecting the oral cavity. [from NCI]

MedGen UID:
6448
Concept ID:
C0026636
Disease or Syndrome
17.

Abnormality of the mouth

MedGen UID:
6447
Concept ID:
C0026633
Congenital Abnormality
18.

Developmental abnormality

Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. [from NCI]

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
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