| 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:0000010 | Recurrent urinary tract infections | "Repeated infections of the urinary tract." [HPO:curators] |
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| HP:0000027 | Azoospermia | |
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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:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
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| HP:0000072 | Hydroureter | "The distention of the ureter with urine." [HPO:curators] |
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| HP:0000083 | Renal failure | |
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| HP:0000135 | Hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators] |
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| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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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:0000238 | Hydrocephalus | |
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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:0000268 | Dolichocephaly | |
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| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000324 | Facial asymmetry | |
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| HP:0000340 | Sloping forehead | "A form of the forehead that slopes from top to bottom in an anterior direction." [HPO:curators] |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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| HP:0000453 | Choanal atresia | "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators] |
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| HP:0000470 | Short neck | |
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| HP:0000483 | Astigmatism | |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000505 | Impaired vision | |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000520 | Proptosis | |
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| HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
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| HP:0000582 | Upslanting palpebral fissures | |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000813 | Bicornuate uterus | |
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| HP:0000819 | Diabetes mellitus | |
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| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
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| HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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| HP:0000957 | Cafe-au-lait spots | |
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| HP:0001053 | Hypopigmented skin patches | |
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| HP:0001199 | Triphalangeal thumb | "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. The thumb normally consists of the first metacarpal and a proximal and distal phalanx. All other digits have an additional middle phalanx. This term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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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:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001392 | Abnormality of the liver | |
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| HP:0001433 | Hepatosplenomegaly | |
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| HP:0001511 | Intrauterine growth retardation | |
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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:0001562 | Oligohydramnios | |
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| HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
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| HP:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] |
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| HP:0001636 | Tetralogy of Fallot | "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [HPO:curators] |
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| HP:0001639 | Hypertrophic cardiomyopathy | |
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| HP:0001643 | Patent ductus arteriosus | |
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| HP:0001646 | Abnormality of the aortic valve | "Any abnormality of the `aortic valve` (FMA:7236)." [HPO:curators] |
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| HP:0001679 | Abnormalities of the aorta | |
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| HP:0001738 | Exocrine pancreatic insufficiency | |
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| HP:0001763 | Pes planus | "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators] |
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| HP:0001770 | Toe syndactyly | "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0001824 | Weight loss | |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001882 | Leukopenia | |
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| HP:0001915 | Aplastic anemia | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0002027 | Abdominal pain | |
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| HP:0002032 | Esophageal atresia | "A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach." [HPO:curators] |
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| HP:0002039 | Anorexia | |
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| HP:0002119 | Ventriculomegaly | |
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| HP:0002245 | Meckel diverticulum | |
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| HP:0002251 | Congenital megacolon | "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:curators] |
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| HP:0002254 | Intermittent diarrhea | |
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| HP:0002414 | Spina bifida | "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open." [HPO:curators] |
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| HP:0002575 | Tracheoesophageal fistula | "An abnormal connection (fistula) between the esophagus and the trachea." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002667 | Nephroblastoma (Wilms tumor) | "A kind of renal tumor primarily affecting children. It is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever." [HPO:curators] |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002823 | Abnormality of the femur | "Abnormality of the femur (i.e., the thigh bone)." [HPO:curators] |
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| HP:0002827 | Dislocated hips | |
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| HP:0002861 | Malignant melanoma | "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators] |
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| HP:0002863 | Myelodysplasia | |
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| HP:0002885 | Medulloblastoma | |
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| HP:0002894 | Pancreatic cancer | |
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| HP:0002896 | Liver cancer | |
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| 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] |
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| HP:0003002 | Breast cancer | |
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| HP:0003003 | Colon cancer | |
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| HP:0003006 | Neuroblastoma | "Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum." [HPO:curators] |
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| HP:0003022 | Hypoplasia of the ulna | "Underdevelopment of the ulna." [HPO:curators] |
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| HP:0003220 | Tendency to chromosomal breakage | "A type of chromosomal aberration characterized by an increased susceptibility to chromosomal breakage induced by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents." [HPO:curators] |
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| HP:0003221 | Chromosomal breakage induced by diepoxybutane (DEB), and mitomycin C | |
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| HP:0003418 | Back pain | |
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| HP:0004209 | Clinodactyly of the 5th finger | "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [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:0004349 | Reduced bone mineral density | "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:curators] |
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| HP:0004389 | Intestinal pseudo-obstruction | |
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| HP:0004396 | Poor appetite | |
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| HP:0005249 | Functional intestinal obstruction | |
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| HP:0005344 | Abnormality of the carotid arteries | |
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| HP:0005522 | Anemia, pyridoxine-responsive | |
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| HP:0006101 | Finger syndactyly | "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0006265 | Aplasia/Hypoplasia of fingers | "Small/hypoplastic or absent/aplastic fingers." [HPO:curators] |
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| HP:0006501 | Aplasia/Hypoplasia of the radius | "A small/hypoplastic or absent/aplastic radius." [HPO:curators] |
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| HP:0006725 | Pancreatic adenocarcinoma | |
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| HP:0006824 | Cranial nerve paralysis | |
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| HP:0007400 | Irregular hyperpigmentation | |
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| HP:0007565 | Multiple cafe-au-lait spots | |
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| HP:0007874 | Almond-shaped palpebral fissures | |
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| HP:0008053 | Aplasia/Hypoplasia of the iris | "Absence or underdevelopment of the iris." [HPO:curators] |
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| HP:0008572 | External ear malformation | |
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| HP:0008678 | Renal hypoplasia/aplasia | |
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| HP:0008897 | Growth retardation, progressive | |
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| HP:0009778 | Hypoplastic/small thumb | |
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| HP:0010293 | Aplasia/Hypoplasia of the uvula | "Underdevelopment or absence of the uvula." [HPO:curators] |
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| HP:0010469 | Aplasia of the testes | "Absence of the testes." [HPO:curators] |
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| HP:0011027 | Abnormality of the fallopian tube | "An abnormality of the `fallopian tube` (FMA:18245)." [HPO:probinson] |
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| HP:0012041 | Decreased fertility in males | |
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| HP:0012125 | Prostate cancer | "A cancer of the `prostate` (FMA:9600)." [HPO:probinson] |
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| HP:0012334 | Extrahepatic cholestasis | "Impairment of bile flow due to obstruction in large bile ducts outside the liver." [HPO:probinson] |
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| HP:0012432 | Chronic fatigue | "Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer." [ORCID:0000-0001-5208-3432] |
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| HP:0012745 | Short palpebral fissure | "Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [pmid:19125427] |
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| HP:0025318 | Ovarian carcinoma | "A malignant neoplasm originating from the surface ovarian epithelium." [] |
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| HP:0030406 | Primary peritoneal carcinoma | "A type of cancer that originates in the peritoneam. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum." [HPO:probinson] |
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| HP:0100026 | Arteriovenous malformations | |
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| HP:0100542 | Abnormal localization of kidneys | |
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| HP:0100587 | Abnormality of the preputium | |
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| HP:0100592 | Peritoneal abscess | "The presence of an `abscess` (MPATH:608) of the `peritoneum` (FMA:9584)." [HPO:probinson] |
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| HP:0100615 | Ovarian neoplasm | "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson] |
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| HP:0100760 | Clubbing of toes | "Terminal broadening of the toes (distal phalanges of the toes)." [HPO:sdoelken] |
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| HP:0100867 | Duodenal stenosis | "The narrowing or partial blockage of a portion of the duodenum." [HPO:sdoelken] |
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