Human Phenotype Ontology 
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Phenotypic abnormality (HP:0000118)help
Term ID: 118
Name: Phenotypic abnormality
Synonym: Organ abnormality
Definition: A phenotypic abnormality.
Comments:
Reference: HP:0000118
Genes and Diseases:There are 12868 terms for your input, too many to show detail here. Please try its child terms.
 
       Child Nodes:
........expandAbnormality of the genitourinary system (HP:0000119) help
................... HP:0000078 Abnormality of the genital system
................... HP:0000079 Abnormality of the urinary system
................... HP:0007379 Neoplasm of the genitourinary tract
................... HP:0012620 Cloacal abnormality
................... HP:0100589 Urogenital fistula
........expandAbnormality of head or neck (HP:0000152) help
................... HP:0000234 Abnormality of the head
................... HP:0000464 Abnormality of the neck
........expandAbnormality of the eye (HP:0000478) help
................... HP:0012372 Abnormal eye morphology
................... HP:0012373 Abnormal eye physiology
........expandAbnormality of the ear (HP:0000598) help
................... HP:0000356 Abnormality of the outer ear
................... HP:0000359 Abnormality of the inner ear
................... HP:0000364 Hearing abnormality
................... HP:0000370 Abnormality of the middle ear
................... HP:0008771 Aplasia/Hypoplasia of the ear
................... HP:0012780 Neoplasm of the ear
................... HP:0030766 Ear pain
........expandAbnormality of the nervous system (HP:0000707) help
................... HP:0012638 Abnormality of nervous system physiology
................... HP:0012639 Abnormality of nervous system morphology
................... HP:0410008 Abnormality of the peripheral nervous system
................... HP:0410014 Abnormality of ganglion
........expandAbnormality of the breast (HP:0000769) help
................... HP:0000771 Gynecomastia
................... HP:0004404 Abnormality of the nipple
................... HP:0010311 Aplasia/Hypoplasia of the breasts
................... HP:0010312 Asymmetry of the breasts
................... HP:0010313 Breast hypertrophy
................... HP:0100013 Neoplasm of the breast
................... HP:0100829 Galactorrhea
................... HP:0100853 Hypoplastic areola
........expandAbnormality of the endocrine system (HP:0000818) help
................... HP:0000777 Abnormality of the thymus
................... HP:0000819 Diabetes mellitus
................... HP:0000820 Abnormality of the thyroid gland
................... HP:0000828 Abnormality of the parathyroid gland
................... HP:0000834 Abnormality of the adrenal glands
................... HP:0000847 Abnormality of renin-angiotensin system
................... HP:0000864 Abnormality of the hypothalamus-pituitary axis
................... HP:0000873 Diabetes insipidus
................... HP:0003117 Abnormality of circulating hormone level
................... HP:0008373 Puberty and gonadal disorders
................... HP:0012029 Abnormality of urine hormone level
................... HP:0012093 Abnormality of endocrine pancreas physiology
................... HP:0012680 Abnormality of the pineal gland
................... HP:0100568 Neoplasm of the endocrine system
........expandAbnormality of the skeletal system (HP:0000924) help
................... HP:0010766 Ectopic calcification
................... HP:0010937 Abnormality of the nasal skeleton
................... HP:0011842 Abnormality of skeletal morphology
................... HP:0011843 Abnormality of skeletal physiology
................... HP:0040068 Abnormality of limb bone
................... HP:0040166 Abnormality of the periosteum
................... HP:3000050 Abnormality of odontoid tissue
........expandAbnormality of prenatal development or birth (HP:0001197) help
................... HP:0001194 Abnormalities of placenta or umbilical cord
................... HP:0001557 Prenatal movement abnormality
................... HP:0001560 Abnormality of the amniotic fluid
................... HP:0001622 Premature birth
................... HP:0001787 Abnormal delivery
................... HP:0001789 Hydrops fetalis
................... HP:0001791 Fetal ascites
................... HP:0002686 Prenatal maternal abnormality
................... HP:0010880 Increased nuchal translucency
................... HP:0011425 Fetal ultrasound soft marker
................... HP:0025116 Fetal distress
................... HP:0030753 Intrauterine fetal demise of one twin after midgestation
................... HP:0030917 Low APGAR score
........expandGrowth abnormality (HP:0001507) help
................... HP:0000002 Abnormality of body height
................... HP:0001510 Growth delay
................... HP:0004323 Abnormality of body weight
................... HP:0030853 Heterotaxy
................... HP:0100555 Asymmetric growth
........expandAbnormality of the integument (HP:0001574) help
................... HP:0000951 Abnormality of the skin
................... HP:0011138 Abnormality of skin adnexa morphology
................... HP:0025276 Abnormality of skin adnexa physiology
................... HP:3000013 Abnormality of platysma
........expandAbnormality of the voice (HP:0001608) help
................... HP:0001609 Hoarse voice
................... HP:0001611 Nasal speech
................... HP:0001612 Weak cry
................... HP:0001618 Dysphonia
................... HP:0001620 High pitched voice
................... HP:0001621 Weak voice
................... HP:0001686 Loss of voice
................... HP:0009088 Speech articulation difficulties
................... HP:0010300 Abnormally low-pitched voice
................... HP:0100271 Hyponasal speech
................... HP:0200046 Cat cry
........expandAbnormality of the cardiovascular system (HP:0001626) help
................... HP:0002597 Abnormality of the vasculature
................... HP:0010948 Abnormality of the fetal cardiovascular system
................... HP:0011025 Abnormality of cardiovascular system physiology
................... HP:0030680 Abnormality of cardiovascular system morphology
........expandAbnormality of blood and blood-forming tissues (HP:0001871) help
................... HP:0001872 Abnormality of thrombocytes
................... HP:0001881 Abnormality of leukocytes
................... HP:0001892 Abnormal bleeding
................... HP:0001928 Abnormality of coagulation
................... HP:0001977 Abnormal thrombosis
................... HP:0001978 Extramedullary hematopoiesis
................... HP:0004377 Hematological neoplasm
................... HP:0005561 Abnormality of bone marrow cell morphology
........expandAbnormality of metabolism/homeostasis (HP:0001939) help
................... HP:0000816 Abnormality of Krebs cycle metabolism
................... HP:0001946 Ketosis
................... HP:0002904 Hyperbilirubinemia
................... HP:0003110 Abnormality of urine homeostasis
................... HP:0003111 Abnormality of ion homeostasis
................... HP:0003119 Abnormality of lipid metabolism
................... HP:0003343 Glutathione synthetase deficiency
................... HP:0003533 Delayed oxidation of acetaldehyde
................... HP:0003570 Molybdenum cofactor deficiency
................... HP:0004354 Abnormality of carboxylic acid metabolism
................... HP:0004358 Abnormality of superoxide metabolism
................... HP:0004360 Abnormality of acid-base homeostasis
................... HP:0004364 Abnormality of nitrogen compound homeostasis
................... HP:0004367 Abnormality of glycoprotein metabolism
................... HP:0004370 Abnormality of temperature regulation
................... HP:0010472 Abnormality of the heme biosynthetic pathway
................... HP:0010876 Abnormality of circulating protein level
................... HP:0010932 Abnormality of nucleobase metabolism
................... HP:0011013 Abnormality of carbohydrate metabolism/homeostasis
................... HP:0011017 Abnormality of cell physiology
................... HP:0011032 Abnormality of fluid regulation
................... HP:0011034 Amyloidosis
................... HP:0012337 Abnormal homeostasis
................... HP:0012379 Abnormal enzyme/coenzyme activity
................... HP:0012537 Food intolerance
................... HP:0025021 Abnormal erythrocyte sedimentation rate
................... HP:0040127 Abnormal sweat homeostasis
................... HP:0040142 5-oxoprolinase deficiency
................... HP:0040302 Hyperglycerolemia
................... HP:0100508 Abnormality of vitamin metabolism
................... HP:0100530 Abnormality of calcium-phosphate metabolism
................... HP:0100758 Gangrene
........expandAbnormality of the respiratory system (HP:0002086) help
................... HP:0002795 Functional respiratory abnormality
................... HP:0012252 Abnormal respiratory system morphology
................... HP:0100606 Neoplasm of the respiratory system
........expandNeoplasm (HP:0002664) help
................... HP:0011792 Neoplasm by histology
................... HP:0011793 Neoplasm by anatomical site
........expandAbnormality of the immune system (HP:0002715) help
................... HP:0010978 Abnormality of immune system physiology
................... HP:0010987 Abnormality of cellular immune system
................... HP:0100763 Abnormality of the lymphatic system
........expandAbnormality of the musculature (HP:0003011) help
................... HP:0000301 Abnormality of facial musculature
................... HP:0000775 Abnormality of the diaphragm
................... HP:0001469 Abnormality of the musculature of the pelvis
................... HP:0002578 Gastroparesis
................... HP:0003800 Muscle abnormality related to mitochondrial dysfunction
................... HP:0008049 Abnormality of the extraocular muscles
................... HP:0008316 Abnormal mitochondria in muscle tissue
................... HP:0008985 Increased intramuscular fat
................... HP:0009127 Abnormality of the musculature of the limbs
................... HP:0009131 Abnormality of the musculature of the thorax
................... HP:0009728 Neoplasm of striated muscle
................... HP:0010991 Abnormality of the abdominal musculature
................... HP:0011006 Abnormality of the musculature of the neck
................... HP:0011804 Abnormality of muscle physiology
................... HP:0011805 Abnormality of muscle morphology
................... HP:0040172 Abnormality of occipitofrontalis muscle
................... HP:0040173 Abnormality of the tongue muscle
................... HP:0040242 Muscle haemorrhage
................... HP:0040286 Abnormality of axial muscles
................... HP:0040290 Abnormality of skeletal muscles
................... HP:0100249 Calcification of muscles
................... HP:0430014 Abnormality of musculature of soft palate
................... HP:0430015 Abnormality of musculature of pharynx
................... HP:3000051 Abnormality of hyoglossus muscle
................... HP:3000067 Abnormality of lateral crico-arytenoid
........expandAbnormality of connective tissue (HP:0003549) help
................... HP:0001371 Flexion contracture
................... HP:0009025 Increased connective tissue
................... HP:0009124 Abnormality of adipose tissue
................... HP:0100494 Abnormality of mast cells
................... HP:0100536 Abnormality of the fascia
................... HP:0100658 Cellulitis
................... HP:0100685 Abnormality of Sharpey fibers
................... HP:0100699 Scarring
................... HP:0100790 Hernia
................... HP:0100881 Congenital mesoblastic nephroma
................... HP:0100898 Connective tissue nevi
................... HP:3000050 Abnormality of odontoid tissue
........expandAbnormality of the digestive system (HP:0025031) help
................... HP:0001438 Abnormality of abdomen morphology
................... HP:0002012 Abnormality of the abdominal organs
................... HP:0004298 Abnormality of the abdominal wall
................... HP:0011024 Abnormality of the gastrointestinal tract
................... HP:0025032 Abnormality of digestive system physiology
................... HP:0025033 Abnormality of digestive system morphology
........expandConstitutional symptom (HP:0025142) help
................... HP:0012378 Fatigue
................... HP:0012531 Pain
................... HP:0025143 Chills
................... HP:0025144 Shivering
................... HP:0030166 Night sweats
........expandAbnormal cellular phenotype (HP:0025354) help
........expandAbnormality of limbs (HP:0040064) help
................... HP:0001218 Autoamputation
................... HP:0001528 Hemihypertrophy
................... HP:0002814 Abnormality of the lower limb
................... HP:0002817 Abnormality of the upper limb
................... HP:0007289 Limb fasciculations
................... HP:0009127 Abnormality of the musculature of the limbs
................... HP:0009815 Aplasia/hypoplasia of the extremities
................... HP:0040068 Abnormality of limb bone
........expandAbnormality of the thoracic cavity (HP:0045027) help
................... HP:0045026 Abnormality of the mediastinum

 Sister Nodes: 
..expandClinical modifier (HP:0012823) help
..expandFrequency (HP:0040279) help
..expandMode of inheritance (HP:0000005) help
..expandMortality/Aging (HP:0040006) help
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is Feb. 201702 release.