From HPO
Premature ovarian insufficiency- MedGen UID:
- 9963
- •Concept ID:
- C0025322
- •
- Disease or Syndrome
Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
Chordee- MedGen UID:
- 66363
- •Concept ID:
- C0221182
- •
- Congenital Abnormality
Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.
Hypospadias- MedGen UID:
- 163083
- •Concept ID:
- C0848558
- •
- Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Aortic valve stenosis- MedGen UID:
- 1621
- •Concept ID:
- C0003507
- •
- Pathologic Function
The presence of a stenosis (narrowing) of the aortic valve.
Bicuspid aortic valve- MedGen UID:
- 57436
- •Concept ID:
- C0149630
- •
- Congenital Abnormality
Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).
Small for gestational age- MedGen UID:
- 65920
- •Concept ID:
- C0235991
- •
- Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Vomiting- MedGen UID:
- 12124
- •Concept ID:
- C0042963
- •
- Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Esophageal ulceration- MedGen UID:
- 56254
- •Concept ID:
- C0151970
- •
- Disease or Syndrome
Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.
High-frequency hearing impairment- MedGen UID:
- 42358
- •Concept ID:
- C0018780
- •
- Disease or Syndrome
A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).
Sensorineural hearing loss disorder- MedGen UID:
- 9164
- •Concept ID:
- C0018784
- •
- Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Abnormally high-pitched voice- MedGen UID:
- 66836
- •Concept ID:
- C0241703
- •
- Finding
A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual.
Insomnia- MedGen UID:
- 214589
- •Concept ID:
- C0917801
- •
- Sign or Symptom
Persistent difficulty initiating or maintaining sleep.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Abnormal joint morphology- MedGen UID:
- 893053
- •Concept ID:
- C0240083
- •
- Finding
An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.
Thoracic scoliosis- MedGen UID:
- 387910
- •Concept ID:
- C1857790
- •
- Anatomical Abnormality
Lack of facial subcutaneous fat- MedGen UID:
- 479056
- •Concept ID:
- C3277426
- •
- Finding
Allergic conjunctivitis- MedGen UID:
- 3590
- •Concept ID:
- C0009766
- •
- Disease or Syndrome
Allergic Conjunctivitis is an allergic inflammation of the conjunctiva.
Immunodeficiency- MedGen UID:
- 7034
- •Concept ID:
- C0021051
- •
- Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Recurrent viral infections- MedGen UID:
- 332357
- •Concept ID:
- C1837066
- •
- Finding
Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.
Impaired T cell function- MedGen UID:
- 395415
- •Concept ID:
- C1860127
- •
- Cell or Molecular Dysfunction
Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.
Allergic rhinitis- MedGen UID:
- 382012
- •Concept ID:
- C2607914
- •
- Disease or Syndrome
It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.
Diabetes mellitus- MedGen UID:
- 8350
- •Concept ID:
- C0011849
- •
- Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Partial congenital absence of teeth- MedGen UID:
- 43794
- •Concept ID:
- C0020608
- •
- Congenital Abnormality
Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see 114600 and 302400.
Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978).
Genetic Heterogeneity of Selective Tooth Agenesis
Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by mutation in the WNT10A gene (606268) on chromosome 2q35; STHAG5 (610926), mapped to chromosome 10q11; STHAG7 (616724), caused by mutation in the LRP6 gene (603507) on chromosome 12p13; STHAG8 (617073), caused by mutation in the WNT10B gene (601906) on chromosome 12q13; STHAG9 (617275), caused by mutation in the GREM2 gene (608832) on chromosome 1q43; STHAG10 (620173), caused by mutation in the TSPEAR gene (612920) on chromosome 21q22; and STHAGX1 (313500), caused by mutation in the EDA gene (300451) on chromosome Xq13.
A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; 601216).
Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia.
Genotype-Phenotype Correlations
Yu et al. (2016) observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.
Irregular dentition- MedGen UID:
- 347297
- •Concept ID:
- C1856765
- •
- Finding
Numerous nevi- MedGen UID:
- 341508
- •Concept ID:
- C1849677
- •
- Finding
Delayed puberty- MedGen UID:
- 46203
- •Concept ID:
- C0034012
- •
- Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Visual loss- MedGen UID:
- 784038
- •Concept ID:
- C3665386
- •
- Finding
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
- Abnormality of head or neck
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation
- Growth abnormality