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Items: 14

1.

Mucolipidosis type IV

Mucolipidosis IV (MLIV) is an ultra-rare lysosomal storage disorder characterized by severe psychomotor delay, progressive visual impairment, and achlorhydria. Individuals with MLIV typically present by the end of the first year of life with delayed developmental milestones (due to a developmental brain abnormality) and impaired vision (resulting from a combination of corneal clouding and retinal degeneration). By adolescence, all individuals with MLIV have severe visual impairment. A neurodegenerative component of MLIV has become more widely appreciated, with the majority of individuals demonstrating progressive spastic quadriparesis and loss of psychomotor skills starting in the second decade of life. About 5% of individuals have atypical MLIV, manifesting with less severe psychomotor impairment, but still exhibiting progressive retinal degeneration and achlorhydria. [from GeneReviews]

MedGen UID:
68663
Concept ID:
C0238286
Disease or Syndrome
2.

COACH syndrome 1

Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene. [from MONDO]

MedGen UID:
1769861
Concept ID:
C5435651
Disease or Syndrome
3.

Scleroderma, familial progressive

Systemic sclerosis is a clinically heterogeneous connective tissue disorder characterized by immune activation, vascular damage, and fibrosis of the skin and major internal organs. Clinical and experimental data suggest that the disorder is multifactorial, involving both genetic and environmental factors (Fonseca et al., 2007). Gabrielli et al. (2009) provided a detailed review of scleroderma, including clinical manifestations and pathophysiology. See also Reynolds syndrome (613471), which shares some clinical features with scleroderma and CREST syndrome. [from OMIM]

MedGen UID:
356661
Concept ID:
C1866983
Disease or Syndrome
4.

Polyposis syndrome, hereditary mixed, 1

The hereditary mixed polyposis syndrome (HMPS) is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas (CRC). Genetic Heterogeneity of Hereditary Mixed Polyposis HMPS2 (610069) is caused by mutation in the BMPR1A gene (601299) on chromosome 10q23. [from OMIM]

MedGen UID:
331320
Concept ID:
C1832587
Disease or Syndrome
5.

Juberg-Hayward syndrome

Juberg-Hayward syndrome (JHS) is characterized by cleft lip and palate, rhizomelia of the upper limbs with limited elbow extension due to humeroradial synostosis or dislocation of the radial head, and digital anomalies, including shortened thumbs and index and fifth fingers. Microcephaly has been observed in some patients (Kantaputra et al., 2020). [from OMIM]

MedGen UID:
162906
Concept ID:
C0796099
Disease or Syndrome
6.

Jejunal atresia

Jejunal atresia is the most common cause of bowel obstruction in the newborn. In this condition, because of agenesis of the mesentery, the distal small bowel comes straight off the caecum and twists around the marginal artery, suggesting a maypole, a Christmas tree, or an apple peel at operation. Obliteration of the superior mesenteric artery may underlie this malformation. [from OMIM]

MedGen UID:
75603
Concept ID:
C0266175
Congenital Abnormality
7.

Isolated agenesis of gallbladder

A developmental defect in which the gallbladder fails to form. [from HPO]

MedGen UID:
82736
Concept ID:
C0266251
Congenital Abnormality
8.

Teratoma, pineal

MedGen UID:
336449
Concept ID:
C1848902
Neoplastic Process
9.

Pancreatic beta cell agenesis with neonatal diabetes mellitus

MedGen UID:
325072
Concept ID:
C1838655
Disease or Syndrome
10.

Cooper-Jabs syndrome

A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987. [from ORDO]

MedGen UID:
347912
Concept ID:
C1859591
Disease or Syndrome
11.

Tryptophan malabsorption syndrome

Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria. [from ORDO]

MedGen UID:
75685
Concept ID:
C0268478
Disease or Syndrome
12.

Developmental delay, impaired speech, and behavioral abnormalities

Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021). [from OMIM]

MedGen UID:
1794167
Concept ID:
C5561957
Disease or Syndrome
13.

Parana hard-skin syndrome

A rare genetic skin disorder with characteristics of very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974. [from SNOMEDCT_US]

MedGen UID:
337964
Concept ID:
C1850079
Disease or Syndrome
14.

Abnormal abdomen morphology

A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. [from HPO]

MedGen UID:
866551
Concept ID:
C4020869
Anatomical Abnormality
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