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Results: 1 to 20 of 91

1.

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]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
2.

Error occurred: cannot get document summary

ID:
447715

3.

Toriello Carey syndrome

The Toriello-Carey syndrome is a multiple congenital anomaly disorder with variable systemic manifestations, most commonly including mental retardation, agenesis of the corpus callosum, postnatal growth delay, cardiac defects, usually septal defects, distal limb defects, and urogenital anomalies in affected males. Patients have facial dysmorphic features, micrognathia, including full cheeks, hypertelorism, flattened nasal bridge, anteverted nares, and short neck. Not all features are found in all patients and some patients may have additional features such as anal anomalies or hernias (review by Toriello et al., 2003). [from OMIM]

MedGen UID:
163225
Concept ID:
C0796184
Disease or Syndrome
4.

Telecanthus

MedGen UID:
140836
Concept ID:
C0423113
Congenital Abnormality
5.

Cleft Palate

Congenital fissure of the soft and/or hard palate, due to faulty fusion. [from MeSH]

MedGen UID:
3107
Concept ID:
C0008925
Congenital Abnormality
6.

Cleft palate

MedGen UID:
776579
Concept ID:
C2240378
Finding
7.

Detected

MedGen UID:
617726
Concept ID:
C0442726
Finding
8.

Short nose

Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. [from HPO]

MedGen UID:
505478
Concept ID:
CN002885
Finding
9.

Pierre-Robin sequence

Pierre Robin malformation is a sequence of developmental malformations characterized by `micrognathia (mandibular hypoplasia)` (HP:0000347), `glossoptosis` (HP:0000162) and `cleft palate` (HP:0000175). [from HPO]

MedGen UID:
504389
Concept ID:
CN000195
Finding
10.

Mode of inheritance

The pattern in which a particular genetic trait or disorder is passed from one generation to the next. [from HPO]

MedGen UID:
504300
Concept ID:
CN000006
Finding
11.

Growth delay

A deficiency or slowing down of growth pre- and postnatally. [from HPO]

MedGen UID:
500905
Concept ID:
CN001379
Finding
12.

Error occurred: cannot get document summary

ID:
488659

13.

Dysmorphic features

MedGen UID:
473141
Concept ID:
C0432072
Congenital Abnormality
14.

Error occurred: cannot get document summary

ID:
449758

15.

Micrognathia

MedGen UID:
401012
Concept ID:
C1866485
Finding
16.

Agenesis of corpus callosum

MedGen UID:
373288
Concept ID:
C1837248
Finding
17.

Postnatal growth retardation

MedGen UID:
355888
Concept ID:
C1865007
Finding
18.

Full cheeks

MedGen UID:
355661
Concept ID:
C1866231
Finding
19.

Telecanthus

MedGen UID:
341785
Concept ID:
C1857498
Finding
20.

Intellectual disability

MedGen UID:
334384
Concept ID:
C1843367
Finding

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