From HPO
Bilateral cryptorchidism- MedGen UID:
- 96568
- •Concept ID:
- C0431663
- •
- Congenital Abnormality
Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
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.
Elevated urine mesaconic acid level- MedGen UID:
- 1054511
- •Concept ID:
- CN377297
- •
- Finding
The amount of mesaconic acid in the urine, normalized for urine concentration, is above the upper limit of normal.
Elevated urine 3-methyladipic acid level- MedGen UID:
- 1052943
- •Concept ID:
- CN377298
- •
- Finding
The amount of 3-methyladipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.
Elevated urinary mevalonate lactone level- MedGen UID:
- 1054294
- •Concept ID:
- CN377504
- •
- Finding
The amount of mevalonate lactone in the urine, normalized for urine concentration, is above the upper limit of normal.
Knee flexion contracture- MedGen UID:
- 98042
- •Concept ID:
- C0409355
- •
- Finding
A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.
2-3 toe syndactyly- MedGen UID:
- 1645640
- •Concept ID:
- C4551570
- •
- Congenital Abnormality
Syndactyly with fusion of toes two and three.
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).
Fetal growth restriction- MedGen UID:
- 4693
- •Concept ID:
- C0015934
- •
- Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Failure to thrive in infancy- MedGen UID:
- 358083
- •Concept ID:
- C1867873
- •
- Finding
Constipation- MedGen UID:
- 1101
- •Concept ID:
- C0009806
- •
- Sign or Symptom
Infrequent or difficult evacuation of feces.
Gastrostomy tube feeding in infancy- MedGen UID:
- 892362
- •Concept ID:
- C4023342
- •
- Finding
Feeding problem necessitating gastrostomy tube feeding.
Macrotia- MedGen UID:
- 488785
- •Concept ID:
- C0152421
- •
- Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
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.
Posteriorly rotated ears- MedGen UID:
- 96566
- •Concept ID:
- C0431478
- •
- Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Polymicrogyria- MedGen UID:
- 78605
- •Concept ID:
- C0266464
- •
- Congenital Abnormality
Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
Hypoplasia of the corpus callosum- MedGen UID:
- 138005
- •Concept ID:
- C0344482
- •
- Congenital Abnormality
Underdevelopment of the corpus callosum.
Irritability- MedGen UID:
- 397841
- •Concept ID:
- C2700617
- •
- Mental Process
A proneness to anger, i.e., a tendency to become easily bothered or annoyed.
Profound global developmental delay- MedGen UID:
- 766364
- •Concept ID:
- C3553450
- •
- Disease or Syndrome
A profound delay in the achievement of motor or mental milestones in the domains of development of a child.
Elevated methylhex-dienedioic level by MRS- MedGen UID:
- 1054091
- •Concept ID:
- CN376654
- •
- Finding
An increase in the level of 3-methylhex-2,4-dienedioic acid or 3-methylhex-3,4-dienedioic acid in the brain identified by magnetic resonance spectroscopy (MRS).
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Retrognathia- MedGen UID:
- 19766
- •Concept ID:
- C0035353
- •
- Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
Elbow flexion contracture- MedGen UID:
- 98367
- •Concept ID:
- C0409338
- •
- Acquired Abnormality
An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.
Slender long bone- MedGen UID:
- 331446
- •Concept ID:
- C1833144
- •
- Finding
Reduced diameter of a long bone.
Hypocholesterolemia- MedGen UID:
- 57479
- •Concept ID:
- C0151718
- •
- Disease or Syndrome
An decreased concentration of cholesterol in the blood.
Decreased LDL cholesterol concentration- MedGen UID:
- 776554
- •Concept ID:
- C0853085
- •
- Finding
An decreased concentration of low-density lipoprotein cholesterol in the blood.
Increased circulating farnesol concentration- MedGen UID:
- 1756698
- •Concept ID:
- C5421597
- •
- Finding
An elevated level of farnesol in the blood circulation.
Elevated circulating methylsuccinic acid concentration- MedGen UID:
- 1753480
- •Concept ID:
- C5421640
- •
- Finding
Increased concentration of methylsuccinic acid in the blood circulation.
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).
Depressed nasal bridge- MedGen UID:
- 373112
- •Concept ID:
- C1836542
- •
- Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Dry skin- MedGen UID:
- 56250
- •Concept ID:
- C0151908
- •
- Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Cutaneous photosensitivity- MedGen UID:
- 87601
- •Concept ID:
- C0349506
- •
- Pathologic Function
An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
Abnormality of hair pigmentation- MedGen UID:
- 869743
- •Concept ID:
- C4024172
- •
- Finding
An abnormality of hair pigmentation (color).
Optic nerve hypoplasia- MedGen UID:
- 137901
- •Concept ID:
- C0338502
- •
- Disease or Syndrome
Underdevelopment of the optic nerve.
Cerebral visual impairment- MedGen UID:
- 890568
- •Concept ID:
- C4048268
- •
- Pathologic Function
A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.
- 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
- Ear malformation
- Growth abnormality