Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 21

1.

Cleft palate

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). [from HPO]

MedGen UID:
3107
Concept ID:
C0008925
Congenital Abnormality; Disease or Syndrome
2.

Cleft upper lip

A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. [from HPO]

MedGen UID:
504391
Concept ID:
CN000197
Finding
3.

Cleft palate

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). [from HPO]

MedGen UID:
504379
Concept ID:
CN000170
Finding
4.

Non-syndromic X-linked intellectual disability

MedGen UID:
502019
Concept ID:
C3501611
Disease or Syndrome
5.

Intellectual disability

MedGen UID:
334384
Concept ID:
C1843367
Finding
6.

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; Disease or Syndrome; Finding
7.

Lymphoid interstitial pneumonia

A lymphocyte-predominant infiltration of the lungs characterized by bibasilar pulmonary infiltrates with dense interstitial accumulations of lymphocytes and plasma cells. [from HPO]

MedGen UID:
82682
Concept ID:
C0264511
Disease or Syndrome
8.

Intellectual functioning disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [from HPO]

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
9.

Mild

Mild; asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated. [from SNOMEDCT_US]

MedGen UID:
268697
Concept ID:
C1513302
Finding
10.

Multiple endocrine neoplasia

An inherited condition that may result in the development of cancers of the endocrine system. There are several types of multiple endocrine neoplasia syndrome, and patients with each type may develop different types of cancer. The altered genes that cause each type can be detected with a blood test. [from NCI]

MedGen UID:
45036
Concept ID:
C0027662
Neoplastic Process
11.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
12.

Intellectual disability, profound

Profound mental retardation is defined as an intelligence quotient (IQ) below 20. [from HPO]

MedGen UID:
43816
Concept ID:
C0020796
Finding; Mental or Behavioral Dysfunction
13.

Mental retardation, X-linked 72

MedGen UID:
375793
Concept ID:
C1846038
Disease or Syndrome
14.

Cleft palate, isolated, and mental retardation

MedGen UID:
370176
Concept ID:
C1970095
Disease or Syndrome
15.

Abidi X-linked mental retardation syndrome

MedGen UID:
337376
Concept ID:
C1846056
Disease or Syndrome
16.

Siderius X-linked mental retardation syndrome

X-linked intellectual disability, Siderius type is a condition characterized by mild to moderate intellectual disability that affects only males. Affected boys often have delayed development of motor skills such as walking, and their speech may be delayed.Individuals with X-linked intellectual disability, Siderius type frequently also have an opening in the lip (cleft lip) with an opening in the roof of the mouth (cleft palate). A cleft can occur on one or both sides of the upper lip.Some boys and men with this condition have distinctive facial features, including a long face, a sloping forehead, a broad nasal bridge, a prominent bone in the lower forehead (supraorbital ridge), and outside corners of the eyes that point upward (upslanting palpebral fissures). Affected individuals may also have low-set ears and large hands. [from GHR]

MedGen UID:
337375
Concept ID:
C1846055
Disease or Syndrome
17.

Median cleft lip and palate

MedGen UID:
440794
Concept ID:
C2749462
Finding
18.

Median cleft lip and palate

Cleft lip or palate affecting the midline region of the palate. [from HPO]

MedGen UID:
413888
Concept ID:
C2750604
Congenital Abnormality; Finding
19.

Orofaciodigital syndrome 6

Orofaciodigital syndrome type VI (OFD6), or Varadi syndrome, is a rare autosomal recessive disorder distinguished from other orofaciodigital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities, including the molar tooth sign (summary by Doss et al., 1998 and Lopez et al., 2014). [from OMIM]

MedGen UID:
411200
Concept ID:
C2745997
Congenital Abnormality; Disease or Syndrome
20.

Richieri-costa/guion-almeida syndrome

The Richieri-Costa/Guion-Almeida syndrome is characterized by mild mental retardation, short stature, microbrachycephaly, ptosis, esotropia, cleft lip/palate. [from OMIM]

MedGen UID:
162914
Concept ID:
C0796142
Disease or Syndrome
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...