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:0000056 | Abnormality of the clitoris | |
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HP:0000077 | Abnormality of the kidneys | "An abnormality of the kidneys, the paired organs whose primary function is the production of urine." [HPO:curators] |
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HP:0000154 | Wide mouth | "Abnormally wide mouth." [HPO:curators] |
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HP:0000233 | Thin vermillion border | |
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HP:0000260 | Wide anterior fontanel | "Enlargement of the anterior fontanelle with respect to age-dependent norms." [HPO:curators] |
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HP:0000322 | Short philtrum | |
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HP:0000325 | Triangular facies | |
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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:0000664 | Synophrys | "Fusion of the left and right `eyebrow` (FMA:54237)." [HPO:probinson] |
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HP:0001009 | Telangiectasia | "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter." [HPO:curators] |
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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:0001394 | Cirrhosis | |
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HP:0001395 | Hepatic fibrosis | |
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HP:0001410 | Decreased liver function | |
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HP:0001413 | Micronodular cirrhosis | |
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HP:0001433 | Hepatosplenomegaly | |
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HP:0001508 | Failure to thrive | |
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HP:0001511 | Intrauterine growth retardation | |
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HP:0001518 | Low birth weight | |
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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:0001643 | Patent ductus arteriosus | |
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HP:0001655 | Patent foramen ovale | |
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HP:0001680 | Coarctation of aorta | "Coarctation of the aorta is a narrowing or constriction of the aorta just distal to the origin of the left subclavian artery." [HPO:curators] |
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HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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HP:0001789 | Hydrops fetalis | |
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HP:0001873 | Thrombocytopenia | |
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HP:0001876 | Pancytopenia | |
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HP:0001903 | Anemia | |
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HP:0001999 | Facial dysmorphism | |
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HP:0002002 | Deep philtrum | |
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HP:0002033 | Poor suck | "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [HPO:curators] |
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HP:0002099 | Asthma | "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [HPO:curators] |
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HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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HP:0002795 | Functional respiratory abnormality | |
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HP:0005280 | Depressed nasal root and bridge | |
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HP:0008665 | Hypertrophic clitoris | |
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HP:0010903 | Abnormality of glutamine metabolism | "An abnormality of a `glutamine metabolic process` (GO:0006541)." [HPO:probinson] |
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HP:0012202 | increased serum bile acid concentration | "An increase in the concentration of `bile acid` (CHEBI:3098) in the blood." [HPO:probinson] |
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HP:0100678 | Wrinkled skin | |
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HP:0200128 | Biventricular hypertrophy | |
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