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Items: 16

1.

Does not

MedGen UID:
721427
Concept ID:
C1299585
Finding
2.

Proliferation

Growth and reproduction of new similar forms, e.g. cells, buds, or offspring. [from NCI]

MedGen UID:
137720
Concept ID:
C0334094
Functional Concept; Pathologic Function
3.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
4.

Body, Physical Appearance

The superficial physical looks, characteristics or qualities of an individual as distinguished from the underlying unseen nature or attributes. [from MeSH]

MedGen UID:
852751
Concept ID:
C0750731
Sign or Symptom
5.

Pigmentation Disorders

Diseases affecting PIGMENTATION, including SKIN PIGMENTATION. [from MeSH]

MedGen UID:
107500
Concept ID:
C0549567
Disease or Syndrome
6.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
7.

Mutagenesis Process

OBSOLETE. The process by which genetic material undergoes a detectable and heritable structural change. There are three categories of mutation: genome mutations, involving addition or subtraction of one or more whole chromosomes; chromosome mutations, which alter the structure of chromosomes; and gene mutations, where the structure of a gene is altered at the molecular level. [ISBN:0198506732] [from GO]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
8.

Skin and Connective Tissue Diseases

A collective term for diseases of the skin and its appendages and of connective tissue. [from MeSH]

MedGen UID:
59786
Concept ID:
C0175166
Disease or Syndrome
9.

Disorder of hair

The average person has 5 million hairs. Hair grows all over your body except on your lips, palms, and the soles of your feet. It takes about a month for healthy hair to grow half an inch. Most hairs grow for up to six years and then fall out. New hairs grow in their place. . Hair helps keep you warm. It also protects your eyes, ears and nose from small particles in the air. Common problem with the hair and scalp include hair loss, infections, and flaking.  [from MedlinePlus]

MedGen UID:
42323
Concept ID:
C0018500
Disease or Syndrome
10.

Disorder of skin

Your skin is your body's largest organ. It covers and protects your body. Your skin. -Holds body fluids in, preventing dehydration. -Keeps harmful microbes out, preventing infections. -Helps you feel things like heat, cold, and pain. -Keeps your body temperature even. -Makes vitamin D when the sun shines on it. Anything that irritates, clogs, or inflames your skin can cause symptoms such as redness, swelling, burning, and itching. Allergies, irritants, your genetic makeup, and certain diseases and immune system problems can cause rashes, hives, and other skin conditions. Many skin problems, such as acne, also affect your appearance. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.  [from MedlinePlus]

MedGen UID:
20777
Concept ID:
C0037274
Disease or Syndrome
11.

Cloudman S91 Malignant Melanoma

A transplantable melanoma that arose spontaneously in a mouse of DBA strain, and which grows and metastasizes in mice of related strains. (dictionarybarn.com) [from NCI]

MedGen UID:
1011
Concept ID:
C0009075
Experimental Model of Disease; Neoplastic Process
12.

Disorder of skin color

MedGen UID:
725714
Concept ID:
C1304361
Disease or Syndrome
13.

Constitutive hair color

MedGen UID:
698704
Concept ID:
C1275439
Finding
14.

Disorder of hair color

MedGen UID:
633892
Concept ID:
C0474377
Disease or Syndrome
15.

Skin/hair/eye pigmentation, variation in, 1

Genetic Heterogeneity of Variation in Skin/Hair/Eye Pigmentation Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (266300) is determined by variation at the MC1R locus (155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (601800) encompasses pigment variation influenced by the TYR gene (606933); SHEP4 (113750), that influenced by the SLC24A5 gene (609802). Variation in the SLC45A2 (606202) and SLC24A4 (609840) genes result in the phenotypic associations SHEP5 (227240) and SHEP6 (210750), respectively. Sequence variation thought to affect expression of KITLG (184745) results in the SHEP7 (611664) phenotypic association. SHEP8 (611724) is associated with variation in the IRF4 gene (601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (600201) influences the SHEP9 association (611742). The SHEP10 association (612267) comprises variation in the TPCN2 gene (612163), and SHEP11 (612271) is associated with polymorphism near the TYRP1 gene (115501). [from OMIM]

MedGen UID:
347326
Concept ID:
C1856895
Finding
16.

Disorders of Pigmentation of the Mouse Skin

MedGen UID:
315758
Concept ID:
C1522416
Disease or Syndrome
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