| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000023 | Inguinal hernia | |
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| HP:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
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| HP:0000040 | Enlarged penis | |
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| HP:0000093 | Proteinuria | |
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| HP:0000138 | Ovarian cysts | |
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| HP:0000147 | polycystic ovaries | |
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| HP:0000154 | Wide mouth | "Abnormally wide mouth." [HPO:curators] |
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| HP:0000179 | Prominent lower lip | "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip." [HPO:curators] |
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| HP:0000212 | Gingival hyperplasia | |
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| HP:0000218 | High palate | "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)." [pmid:19125428] |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000274 | Small face | |
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| HP:0000280 | Coarse facial features | |
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| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000364 | Hearing abnormality | |
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| HP:0000368 | Low-set, posteriorly rotated ears | |
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| HP:0000369 | Low-set ears | "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] |
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| HP:0000400 | Large ears | |
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| HP:0000474 | Excess nuchal skin | |
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| HP:0000520 | Proptosis | |
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| HP:0000771 | Gynecomastia | |
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| HP:0000819 | Diabetes mellitus | |
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| HP:0000820 | Abnormality of the thyroid gland | |
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| HP:0000823 | Delayed puberty | |
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| HP:0000825 | Hyperinsulinemic hypoglycemia | |
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| HP:0000826 | Precocious puberty | "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [HPO:curators] |
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| HP:0000831 | Insulin-resistant diabetes mellitus | |
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| HP:0000842 | Hyperinsulinemia | |
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| HP:0000845 | Acromegaly | "Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness." [HPO:curators] |
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| HP:0000855 | Insulin resistance | |
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| HP:0000956 | Acanthosis nigricans | |
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| HP:0000958 | Dry skin | |
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| HP:0000962 | Hyperkeratosis | "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators] |
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| HP:0000998 | Hypertrichosis | "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:curators] |
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| HP:0001034 | Hyperpigmented macules | |
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| HP:0001156 | Brachydactyly | |
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| HP:0001176 | Large hands | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001259 | Coma | |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001325 | Hypoglycemic coma | |
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| HP:0001395 | Hepatic fibrosis | |
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| HP:0001396 | Cholestasis | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001482 | Subcutaneous nodules | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001518 | Low birth weight | |
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| HP:0001525 | Severe failure to thrive | |
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| HP:0001537 | Umbilical hernia | "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators] |
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| HP:0001805 | Thickened nails | |
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| HP:0001833 | Large feet | |
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| HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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| HP:0001953 | Diabetic ketosis | |
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| HP:0001988 | Recurrent hypoglycemic episodes | |
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| HP:0001999 | Facial dysmorphism | |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002173 | Seizures, hypoglycemic | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002208 | Coarse hair | |
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| HP:0002230 | Generalized hirsutism | "Abnormally increased hair growth over much of the entire body." [HPO:curators] |
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| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
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| HP:0002719 | Recurrent infections | |
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| HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0003074 | Hyperglycemia | |
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| HP:0003162 | Fasting hypoglycemia | |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003270 | Abdominal distention | "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators] |
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| HP:0004298 | Abnormality of the abdominal wall | "The presence of any abnormality affecting the abdominal wall." [HPO:curators] |
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| HP:0004322 | Decreased body height | "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)." [HPO:curators] |
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| HP:0004326 | Cachexia | |
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| HP:0004405 | Prominent nipples | |
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| HP:0004428 | Elfin facies | |
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| HP:0004510 | Islets of Langerhans hyperplasia | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005616 | Accelerated skeletal maturation | "An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0005978 | Noninsulin-dependent diabetes mellitus | |
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| HP:0006288 | Premature eruption of teeth | |
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| HP:0007440 | Generalized hyperpigmentation | |
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| HP:0007495 | Prematurely aged appearance | |
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| HP:0008283 | Hyperinsulinemia, fasting | |
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| HP:0008665 | Hypertrophic clitoris | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0008887 | Adipose tissue loss | |
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| HP:0008897 | Growth retardation, progressive | |
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| HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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| HP:0009928 | Ala nasi, thick | "Increase in bulk of the ala nasi." [pmid:19152422] |
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| HP:0010312 | Asymmetry of the breasts | "Lack of symmetry of the breasts." [HPO:curators] |
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| HP:0010458 | Female pseudohermaphroditism | "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized." [HPO:curators] |
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| HP:0010935 | Abnormality of the upper urinary tract | "An abnormality of the `upper urinary tract` (FMA:45658)." [HPO:probinson] |
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| HP:0011998 | Postprandial hyperglycemia | "An `increased concentration` (PATO:0001162) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670) following a meal." [HPO:probinson] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0012542 | Onychauxis | "Thickened nails without deformity." [HPO:probinson] |
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| HP:0030794 | Abnormal C-peptide level | "An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion." [HPO:probinson, PMID:15198367] |
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| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
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| HP:0100578 | Lipoatrophy | "Localized loss of fat tissue." [HPO:sdoelken] |
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