| HP:0000008 | Abnormality of female internal genitalia | |
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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:0000039 | Epispadias | "Displacement of the urethral opening on the dorsal (superior) surface of the penis." [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:0000190 | Frenular abnormality | "An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth." [HPO:probinson] |
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| HP:0000233 | Thin vermillion border | |
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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:0000668 | Hypodontia | "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators] |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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| HP:0000691 | Microdontia | |
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| HP:0000774 | Narrow chest | |
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| HP:0001161 | Polydactyly (hands) | |
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| HP:0001231 | Abnormality of the fingernails | "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson] |
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| HP:0001241 | Capitate-hamate fusion | |
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| HP:0001249 | Mental retardation | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001511 | Intrauterine growth retardation | |
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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:0001654 | Abnormality of the heart valves | "An abnormality of a `Cardiac valve` (FMA:7110)." [HPO:probinson] |
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| HP:0001696 | Situs inversus | "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators] |
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| HP:0001800 | Hypoplastic toenails | "Underdeveloped toenails." [HPO:curators] |
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| HP:0001829 | Polydactyly (feet) | |
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| HP:0002097 | Emphysema | |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002488 | Acute leukemia | |
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| HP:0002644 | Abnormality of the pelvis | "An abnormality of the bony pelvis (pelvic girdle); which is a ring of bones connecting the vertebral column to the femurs." [HPO:curators] |
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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:0002857 | Genu valgum | |
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| HP:0002967 | Cubitus valgus | |
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| HP:0002983 | Micromelia | |
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| HP:0005048 | fusion of carpal bones, especially capitate and hamate | |
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| HP:0005561 | Generalized abnormality of the bone marrow | |
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| HP:0006695 | Tricuspid and mitral valves are replaced by a single inlet valve | |
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| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
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| HP:0008678 | Renal hypoplasia/aplasia | |
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| HP:0008921 | Neonatal short-limbed dwarfism | |
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| HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
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| HP:0010306 | Short thorax | "Reduced inferior to superior extent of the thorax." [HPO:curators] |
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| HP:0011065 | Conical incisor | "An abnormal `conical` (PATO:0002021) morphology of the `incisor tooth` (FMA:12823)." [HPO:ibailleulforestier] |
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| HP:0011362 | Abnormal hair quantity | "An abnormal amount of hair." [DDD:cmoss] |
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| HP:0011830 | Abnormality of oral mucosa | "Abnormality of the `oral mucosa` (FMA:59660)." [HPO:probinson] |
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