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Items: 14

1.

Haploinsufficiency

A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient. [from MeSH]

MedGen UID:
424691
Concept ID:
C2936267
Cell or Molecular Dysfunction
2.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
3.

Abnormal

Deviating in any way from the state, position, structure, condition, behavior, or rule which is considered a norm. (NCI) [from NCI_CDISC]

MedGen UID:
59964
Concept ID:
C0205161
Finding
4.

Pregnancy

So you're going to have a baby! Whether you are pregnant or are planning to get pregnant, you will want to give your baby a healthy start. You need to have regular visits with your healthcare provider. These prenatal care visits are very important for your baby and yourself. Some things you might do when you are pregnant could hurt your baby, such as smoking or drinking. Some medicines can also be a problem, even ones that a doctor prescribed. You will need to drink plenty of fluids and eat a healthy diet. You may also be tired and need more rest. Your body will change as your baby grows during the nine months of your pregnancy. Don't hesitate to call your health care provider if you think you have a problem or something is bothering or worrying you. .  [from MedlinePlus]

MedGen UID:
10895
Concept ID:
C0032961
Organism Function
5.

Abnormal inner ear epithelium morphology

Any structural anomaly of an inner ear epithelium. [from HPO]

MedGen UID:
892772
Concept ID:
C4073211
Anatomical Abnormality
6.

Abnormal peripheral nervous system morphology

An abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). [from HPO]

MedGen UID:
892389
Concept ID:
C4025831
Anatomical Abnormality
7.

Abnormal inner ear epithelium morphology

Any structural anomaly of an inner ear epithelium. [from HPO]

MedGen UID:
851066
Concept ID:
CN232239
Anatomical Abnormality
8.

Pattern of pregnancy

MedGen UID:
708527
Concept ID:
C1286039
Finding
9.

Biological hair pattern

MedGen UID:
602667
Concept ID:
C0423856
Finding
10.

Abnormal peripheral nervous system morphology

An abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). [from HPO]

MedGen UID:
446375
Concept ID:
CN000713
Finding
11.

Abnormality of the helix

An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe. [from HPO]

MedGen UID:
344782
Concept ID:
C1856660
Finding
12.

Ear without helix

MedGen UID:
343678
Concept ID:
C1851899
Finding
13.

Abnormality of the pinna

An abnormality of the pinna, which is also referred to as the auricle or external ear. [from HPO]

MedGen UID:
167800
Concept ID:
C0857379
Finding
14.

Abnormality of the pinna

An abnormality of the pinna, which is also referred to as the auricle or external ear. [from HPO]

MedGen UID:
140913
Concept ID:
C0431483
Congenital Abnormality
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