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  • The following term was not found in MedGen: opIota.
1.

Fanconi anemia complementation group R

Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA. [from GeneReviews]

MedGen UID:
924579
Concept ID:
C4284093
Disease or Syndrome
2.

Hypoparathyroidism, deafness, renal disease syndrome

HDR syndrome (HDRS), also known as Barakat syndrome, is a heterogeneous disorder characterized by the triad of Hypoparathyroidism (H), nerve Deafness (D) and/or Renal disease (R). Variable clinical features include hypogonadotrophic hypogonadism, polycystic ovaries, congenital heart disease, retinitis pigmentosa, and cognitive disability (Barakat et al., 2018). [from OMIM]

MedGen UID:
374443
Concept ID:
C1840333
Disease or Syndrome
3.

Abnormal QRS complex

An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram. [from HPO]

MedGen UID:
1370423
Concept ID:
C4476580
Finding
4.

Transcobalamin I deficiency

A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic. [from ORDO]

MedGen UID:
90993
Concept ID:
C0342700
Disease or Syndrome
5.

Ring chromosome 22

An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics. [from SNOMEDCT_US]

MedGen UID:
539299
Concept ID:
C0265492
Disease or Syndrome
6.

Prolonged QRS complex

Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec. [from HPO]

MedGen UID:
489828
Concept ID:
C0235475
Finding
7.

Increased QRS voltage

Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm). [from HPO]

MedGen UID:
909971
Concept ID:
C1112650
Finding
8.

VATER association

VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). This combination of associated defects was pointed out by Quan and Smith (1972). Nearly all cases have been sporadic. VACTERL is an acronym for an expanded definition of the association that includes cardiac malformations (C) and limb anomalies (L). The VACTERL association is a spectrum of various combinations of its 6 components, which can be a manifestation of several recognized disorders rather than a distinct anatomic or etiologic entity (Khoury et al., 1983). Also see VATER/VACTERL association with hydrocephalus (VACTERL-H; 276950) and VACTERL with or without hydrocephalus (VACTERLX; 314390). [from OMIM]

MedGen UID:
902479
Concept ID:
C4225671
Disease or Syndrome
9.

Intrinsic factor and r binder, combined congenital deficiency of

MedGen UID:
340942
Concept ID:
C1855721
Disease or Syndrome
10.

Peroxisome biogenesis disorder, complementation group R

MedGen UID:
356512
Concept ID:
C1866352
Disease or Syndrome
11.

PARC syndrome

A rare genetic developmental defect during embryogenesis. A syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. [from SNOMEDCT_US]

MedGen UID:
373923
Concept ID:
C1838256
Disease or Syndrome
12.

Polymerase proofreading-related adenomatous polyposis

MedGen UID:
51342
Concept ID:
C0130294
Organic Chemical
13.

Joubert syndrome with renal defect

Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen. [from GeneReviews]

MedGen UID:
335526
Concept ID:
C1846790
Disease or Syndrome
14.

Peroxisome biogenesis disorder 9B

Adult Refsum disease (ARD is associated with elevated plasma phytanic acid levels, late childhood-onset (or later) retinitis pigmentosa, and variable combinations of anosmia, polyneuropathy, deafness, ataxia, and ichthyosis. Onset of symptoms ranges from age seven months to older than age 50 years. Cardiac arrhythmia and heart failure caused by cardiomyopathy are potentially severe health problems that develop later in life. [from GeneReviews]

MedGen UID:
440765
Concept ID:
C2749346
Disease or Syndrome
15.

VACTERL with hydrocephalus

VACTERL describes a constellation of congenital anomalies, including vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects; see 192350. Cases of familial VACTERL with hydrocephalus (H) have been reported with suggestion of autosomal recessive or X-linked inheritance (see 314390). Other patients thought to have VACTERL-H, including 2 unrelated infants reported by Porteous et al. (1992), had been found to have Fanconi anemia (see 227650). Porteous et al. (1992) suggested that chromosomal breakage studies should be performed in all cases of VACTERL/VACTERL-H to rule out Fanconi anemia. Alter et al. (2007) noted that a VATER phenotype had been reported in Fanconi anemia of complementation groups A (227650), C (227645), D1 (605724), E (600901), F (603467), and G (614082). X-linked VACTERL-H is also associated with mutations in the FANCB gene (300515). [from OMIM]

MedGen UID:
376400
Concept ID:
C1848599
Disease or Syndrome
16.

Prolonged PR interval

Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex). [from HPO]

MedGen UID:
154645
Concept ID:
C0600125
Finding
17.

Ring chromosome 7

Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis). [from ORDO]

MedGen UID:
419454
Concept ID:
C2931622
Cell or Molecular Dysfunction
18.

Shortened PR interval

Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long. [from HPO]

MedGen UID:
105466
Concept ID:
C0520878
Finding
19.

Ring chromosome 4 syndrome

An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies. [from SNOMEDCT_US]

MedGen UID:
75571
Concept ID:
C0265407
Disease or Syndrome
20.

Chromosome 8-derived supernumerary ring/marker

A rare chromosomal anomaly from a variable part of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and intellectual disability overlapping with the well-known mosaic trisomy 8 syndrome. [from SNOMEDCT_US]

MedGen UID:
895673
Concept ID:
C4274902
Disease or Syndrome
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