| 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] |
Show
|
| HP:0000065 | Labial hypertrophy | |
Show
|
| HP:0000083 | Renal failure | |
Show
|
| HP:0000098 | Increased body height | |
Show
|
| HP:0000112 | Nephropathy | "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] |
Show
|
| HP:0000141 | Amenorrhea | |
Show
|
| HP:0000147 | polycystic ovaries | |
Show
|
| HP:0000163 | Abnormality of the oral cavity | "Abnormality of the opening or hollow part of the mouth." [HPO:curators] |
Show
|
| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
Show
|
| HP:0000325 | Triangular facies | |
Show
|
| HP:0000336 | Prominent supraorbital ridges | "Abnormal prominence of the supraorbital ridges, which are bony ridge located above the eye sockets in the area of the eyebrows." [HPO:curators] |
Show
|
| HP:0000400 | Large ears | |
Show
|
| HP:0000787 | Kidney stones | |
Show
|
| HP:0000819 | Diabetes mellitus | |
Show
|
| 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] |
Show
|
| HP:0000842 | Hyperinsulinemia | |
Show
|
| 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] |
Show
|
| HP:0000855 | Insulin resistance | |
Show
|
| HP:0000868 | Decreased fertility in females | |
Show
|
| HP:0000876 | Oligomenorrhea | |
Show
|
| HP:0000877 | Insulin-resistant diabetes mellitus at puberty | |
Show
|
| HP:0000956 | Acanthosis nigricans | |
Show
|
| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
Show
|
| HP:0001000 | Abnormality of skin pigmentation | |
Show
|
| HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
Show
|
| HP:0001176 | Large hands | |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| HP:0001394 | Cirrhosis | |
Show
|
| HP:0001397 | Hepatic steatosis | |
Show
|
| HP:0001399 | Hepatic failure | |
Show
|
| HP:0001425 | Heterogeneous | |
Show
|
| 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] |
Show
|
| HP:0001544 | Prominent umbilicus | "Abnormally prominent umbilicus (belly button)." [HPO:curators] |
Show
|
| HP:0001638 | Cardiomyopathy | |
Show
|
| HP:0001639 | Hypertrophic cardiomyopathy | |
Show
|
| HP:0001658 | Myocardial infarction | |
Show
|
| HP:0001733 | Pancreatitis | |
Show
|
| HP:0001735 | Pancreatitis, acute | |
Show
|
| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
Show
|
| HP:0001769 | Broad feet | "Increased width of the feet." [HPO:curators] |
Show
|
| HP:0001833 | Large feet | |
Show
|
| HP:0002092 | Pulmonary hypertension | |
Show
|
| HP:0002119 | Ventriculomegaly | |
Show
|
| HP:0002155 | Hypertriglyceridemia | |
Show
|
| HP:0002230 | Generalized hirsutism | "Abnormally increased hair growth over much of the entire body." [HPO:curators] |
Show
|
| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
Show
|
| HP:0002591 | Polyphagia | |
Show
|
| HP:0002721 | Immunodeficiency | |
Show
|
| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
Show
|
| HP:0002833 | Lytic cystic lesions in appendicular bones (occurs after puberty) | |
Show
|
| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
Show
|
| HP:0003292 | Decreased serum leptin | |
Show
|
| HP:0003712 | Muscle hypertrophy | "Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells)." [HPO:curators] |
Show
|
| HP:0003716 | Generalized muscular appearance from birth | |
Show
|
| HP:0003809 | Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) | |
Show
|
| 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] |
Show
|
| HP:0008665 | Hypertrophic clitoris | |
Show
|
| HP:0009125 | Lipodystrophy | "Degenerative changes of the fat tissue." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0012062 | Bone cyst | "A fluid filled cavity that develops with a bone." [HPO:probinson] |
Show
|
| HP:0100545 | Arterial stenosis | |
Show
|
| HP:0100578 | Lipoatrophy | "Localized loss of fat tissue." [HPO:sdoelken] |
Show
|
| HP:0100820 | Glomerulopathy | "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken] |
Show
|
