From HPO
Interstitial nephritis- MedGen UID:
- 11952
- •Concept ID:
- C0041349
- •
- Disease or Syndrome
A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.
Chronic kidney disease- MedGen UID:
- 473458
- •Concept ID:
- C1561643
- •
- Disease or Syndrome
Functional anomaly of the kidney persisting for at least three months.
Stage 1 chronic kidney disease- MedGen UID:
- 378390
- •Concept ID:
- C2316401
- •
- Disease or Syndrome
A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2).
Stage 5 chronic kidney disease- MedGen UID:
- 384526
- •Concept ID:
- C2316810
- •
- Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Renal magnesium wasting- MedGen UID:
- 1811452
- •Concept ID:
- C5574944
- •
- Finding
High urine magnesium in the presence of hypomagnesemia.
Brachydactyly- MedGen UID:
- 67454
- •Concept ID:
- C0221357
- •
- Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Single transverse palmar crease- MedGen UID:
- 96108
- •Concept ID:
- C0424731
- •
- Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Triphalangeal hallux- MedGen UID:
- 609308
- •Concept ID:
- C0432034
- •
- Congenital Abnormality
A hallux (big toe) with three phalanges in a single, proximo-distal axis.
Short humerus- MedGen UID:
- 316907
- •Concept ID:
- C1832117
- •
- Congenital Abnormality
Underdevelopment of the humerus.
Fibular hypoplasia- MedGen UID:
- 316909
- •Concept ID:
- C1832119
- •
- Finding
Underdevelopment of the fibula.
Radial deviation of finger- MedGen UID:
- 322852
- •Concept ID:
- C1836189
- •
- Finding
Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Short toe- MedGen UID:
- 322858
- •Concept ID:
- C1836195
- •
- Finding
A toe that appears disproportionately short compared to the foot.
Short distal phalanx of finger- MedGen UID:
- 326590
- •Concept ID:
- C1839829
- •
- Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Broad toe- MedGen UID:
- 351283
- •Concept ID:
- C1865038
- •
- Finding
Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.
Rhizomelia- MedGen UID:
- 357122
- •Concept ID:
- C1866730
- •
- Congenital Abnormality
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Broad distal phalanges of all fingers- MedGen UID:
- 869745
- •Concept ID:
- C4024174
- •
- Anatomical Abnormality
Abnormally wide (broad) distal phalanx of finger of all fingers.
Clinodactyly- MedGen UID:
- 1644094
- •Concept ID:
- C4551485
- •
- Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
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).
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Liver failure- MedGen UID:
- 88444
- •Concept ID:
- C0085605
- •
- Disease or Syndrome
A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.
Hepatic fibrosis- MedGen UID:
- 116093
- •Concept ID:
- C0239946
- •
- Disease or Syndrome
The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
Hepatic cysts- MedGen UID:
- 82761
- •Concept ID:
- C0267834
- •
- Disease or Syndrome
A cystic lesion located in the liver.
Protuberant abdomen- MedGen UID:
- 340750
- •Concept ID:
- C1854928
- •
- Finding
A thrusting or bulging out of the abdomen.
Malformation of the hepatic ductal plate- MedGen UID:
- 346605
- •Concept ID:
- C1857519
- •
- Finding
Low-set ears- MedGen UID:
- 65980
- •Concept ID:
- C0239234
- •
- Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Protruding ear- MedGen UID:
- 343309
- •Concept ID:
- C1855285
- •
- Finding
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
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.
Inguinal hernia- MedGen UID:
- 6817
- •Concept ID:
- C0019294
- •
- Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Osteoporosis- MedGen UID:
- 14535
- •Concept ID:
- C0029456
- •
- Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Dolichocephaly- MedGen UID:
- 65142
- •Concept ID:
- C0221358
- •
- Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Isolated scaphocephaly- MedGen UID:
- 82712
- •Concept ID:
- C0265534
- •
- Congenital Abnormality
Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.
Short thorax- MedGen UID:
- 140876
- •Concept ID:
- C0426789
- •
- Finding
Reduced inferior to superior extent of the thorax.
Narrow chest- MedGen UID:
- 96528
- •Concept ID:
- C0426790
- •
- Finding
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
Short ribs- MedGen UID:
- 98094
- •Concept ID:
- C0426817
- •
- Finding
Reduced rib length.
Sagittal craniosynostosis- MedGen UID:
- 140921
- •Concept ID:
- C0432123
- •
- Congenital Abnormality
A kind of craniosynostosis affecting the sagittal suture.
Joint hypermobility- MedGen UID:
- 336793
- •Concept ID:
- C1844820
- •
- Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Flattened epiphysis- MedGen UID:
- 387844
- •Concept ID:
- C1857527
- •
- Finding
Abnormal flatness (decreased height) of epiphyses.
Pectus excavatum- MedGen UID:
- 781174
- •Concept ID:
- C2051831
- •
- Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Recurrent respiratory infections- MedGen UID:
- 812812
- •Concept ID:
- C3806482
- •
- Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Hypocalcemia- MedGen UID:
- 5705
- •Concept ID:
- C0020598
- •
- Disease or Syndrome
An abnormally decreased calcium concentration in the blood.
Enamel hypoplasia- MedGen UID:
- 3730
- •Concept ID:
- C0011351
- •
- Disease or Syndrome
Developmental hypoplasia of the dental enamel.
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.
High forehead- MedGen UID:
- 65991
- •Concept ID:
- C0239676
- •
- Finding
An abnormally increased height of the forehead.
Microdontia- MedGen UID:
- 66008
- •Concept ID:
- C0240340
- •
- Congenital Abnormality
Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
High palate- MedGen UID:
- 66814
- •Concept ID:
- C0240635
- •
- Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Anodontia- MedGen UID:
- 98313
- •Concept ID:
- C0399352
- •
- Congenital Abnormality
The absence of all teeth from the normal series by a failure to develop.
Telecanthus- MedGen UID:
- 140836
- •Concept ID:
- C0423113
- •
- Finding
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Epicanthus- MedGen UID:
- 151862
- •Concept ID:
- C0678230
- •
- Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
High, narrow palate- MedGen UID:
- 324787
- •Concept ID:
- C1837404
- •
- Finding
The presence of a high and narrow palate.
Anteverted nares- MedGen UID:
- 326648
- •Concept ID:
- C1840077
- •
- Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Widely spaced teeth- MedGen UID:
- 337093
- •Concept ID:
- C1844813
- •
- Finding
Increased spaces (diastemata) between most of the teeth in the same dental arch.
Wide nasal bridge- MedGen UID:
- 341441
- •Concept ID:
- C1849367
- •
- Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Everted lower lip vermilion- MedGen UID:
- 344003
- •Concept ID:
- C1853246
- •
- Finding
An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.
Full cheeks- MedGen UID:
- 355661
- •Concept ID:
- C1866231
- •
- Finding
Increased prominence or roundness of soft tissues between zygomata and mandible.
Ectodermal dysplasia- MedGen UID:
- 8544
- •Concept ID:
- C0013575
- •
- Disease or Syndrome
Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
Short nail- MedGen UID:
- 140850
- •Concept ID:
- C0423808
- •
- Finding
Decreased length of nail.
Thin nail- MedGen UID:
- 98073
- •Concept ID:
- C0423823
- •
- Finding
Nail that appears thin when viewed on end.
Fine hair- MedGen UID:
- 98401
- •Concept ID:
- C0423867
- •
- Finding
Hair that is fine or thin to the touch.
Slow-growing hair- MedGen UID:
- 371309
- •Concept ID:
- C1832348
- •
- Finding
Hair whose growth is slower than normal.
Sparse hair- MedGen UID:
- 1790211
- •Concept ID:
- C5551005
- •
- Finding
Reduced density of hairs.
Myopia- MedGen UID:
- 44558
- •Concept ID:
- C0027092
- •
- Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Nystagmus- MedGen UID:
- 45166
- •Concept ID:
- C0028738
- •
- Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Hypotelorism- MedGen UID:
- 96107
- •Concept ID:
- C0424711
- •
- Finding
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
Retinal dystrophy- MedGen UID:
- 208903
- •Concept ID:
- C0854723
- •
- Finding
Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Ear malformation