#Created at 3/04/2016 13:07:22 (day/month/year hour:min:sec) Type HP_ID HP_name HP_subontology SPHO_level supra_sf HP:0001522 Death in infancy Mortality_Aging Moderately Informative supra_sf HP:0003811 Neonatal death Mortality_Aging Moderately Informative supra_sf HP:0003819 Death in childhood Mortality_Aging Moderately Informative supra_sf HP:0000006 Autosomal dominant inheritance Mode_of_inheritance Least Informative supra_sf HP:0010985 Gonosomal inheritance Mode_of_inheritance Informative supra_sf HP:0003745 Sporadic Mode_of_inheritance Highly Informative supra_sf HP:0001426 Multifactorial inheritance Mode_of_inheritance Highly Informative supra_sf HP:0001428 Somatic mutation Mode_of_inheritance Highly Informative supra_sf HP:0001450 Y-linked inheritance Mode_of_inheritance Highly Informative supra_sf HP:0001425 Heterogeneous Mode_of_inheritance Highly Informative supra_sf HP:0003577 Congenital onset Clinical_modifier Least Informative supra_sf HP:0003812 Phenotypic variability Clinical_modifier Moderately Informative supra_sf HP:0003679 Pace of progression Clinical_modifier Moderately Informative supra_sf HP:0003828 Variable expressivity Clinical_modifier Informative supra_sf HP:0003676 Progressive Clinical_modifier Informative supra_sf HP:0003581 Adult onset Clinical_modifier Informative supra_sf HP:0003593 Infantile onset Clinical_modifier Informative supra_sf HP:0003621 Juvenile onset Clinical_modifier Informative supra_sf HP:0003678 Rapidly progressive Clinical_modifier Informative supra_sf HP:0003677 Slow progression Clinical_modifier Informative supra_sf HP:0003623 Neonatal onset Clinical_modifier Highly Informative supra_sf HP:0011008 Temporal pattern Clinical_modifier Highly Informative supra_sf HP:0011463 Childhood onset Clinical_modifier Highly Informative supra_sf HP:0011462 Young adult onset Clinical_modifier Highly Informative supra_sf HP:0003829 Incomplete penetrance Clinical_modifier Highly Informative supra_sf HP:0003596 Middle age onset Clinical_modifier Highly Informative supra_sf HP:0001939 Abnormality of metabolism/homeostasis Phenotypic_abnormality Least Informative supra_sf HP:0012639 Abnormality of nervous system morphology Phenotypic_abnormality Least Informative supra_sf HP:0000478 Abnormality of the eye Phenotypic_abnormality Least Informative supra_sf HP:0001574 Abnormality of the integument Phenotypic_abnormality Least Informative supra_sf HP:0011842 Abnormality of skeletal morphology Phenotypic_abnormality Least Informative supra_sf HP:0001626 Abnormality of the cardiovascular system Phenotypic_abnormality Least Informative supra_sf HP:0000271 Abnormality of the face Phenotypic_abnormality Least Informative supra_sf HP:0040064 Abnormality of limbs Phenotypic_abnormality Least Informative supra_sf HP:0012638 Abnormality of nervous system physiology Phenotypic_abnormality Least Informative supra_sf HP:0001438 Abnormality of the abdomen Phenotypic_abnormality Least Informative supra_sf HP:0002086 Abnormality of the respiratory system Phenotypic_abnormality Least Informative supra_sf HP:0002715 Abnormality of the immune system Phenotypic_abnormality Least Informative supra_sf HP:0000119 Abnormality of the genitourinary system Phenotypic_abnormality Least Informative supra_sf HP:0003011 Abnormality of the musculature Phenotypic_abnormality Least Informative supra_sf HP:0011446 Abnormality of higher mental function Phenotypic_abnormality Moderately Informative supra_sf HP:0011804 Abnormality of muscle physiology Phenotypic_abnormality Moderately Informative supra_sf HP:0000315 Abnormality of the orbital region Phenotypic_abnormality Moderately Informative supra_sf HP:0001871 Abnormality of blood and blood-forming tissues Phenotypic_abnormality Moderately Informative supra_sf HP:0000164 Abnormality of the teeth Phenotypic_abnormality Moderately Informative supra_sf HP:0001760 Abnormality of the foot Phenotypic_abnormality Moderately Informative supra_sf HP:0002060 Abnormality of the cerebrum Phenotypic_abnormality Moderately Informative supra_sf HP:0001155 Abnormality of the hand Phenotypic_abnormality Moderately Informative supra_sf HP:0011297 Abnormality of digit Phenotypic_abnormality Moderately Informative supra_sf HP:0001367 Abnormal joint morphology Phenotypic_abnormality Moderately Informative supra_sf HP:0000364 Hearing abnormality Phenotypic_abnormality Moderately Informative supra_sf HP:0002795 Functional respiratory abnormality Phenotypic_abnormality Moderately Informative supra_sf HP:0009115 Aplasia/hypoplasia involving the skeleton Phenotypic_abnormality Moderately Informative supra_sf HP:0011821 Abnormality of facial skeleton Phenotypic_abnormality Moderately Informative supra_sf HP:0011138 Abnormality of skin adnexa Phenotypic_abnormality Moderately Informative supra_sf HP:0000925 Abnormality of the vertebral column Phenotypic_abnormality Moderately Informative supra_sf HP:0000079 Abnormality of the urinary system Phenotypic_abnormality Moderately Informative supra_sf HP:0012759 Neurodevelopmental abnormality Phenotypic_abnormality Moderately Informative supra_sf HP:0001627 Abnormal heart morphology Phenotypic_abnormality Moderately Informative supra_sf HP:0000078 Abnormality of the genital system Phenotypic_abnormality Moderately Informative supra_sf HP:0002012 Abnormality of the abdominal organs Phenotypic_abnormality Moderately Informative supra_sf HP:0000002 Abnormality of body height Phenotypic_abnormality Moderately Informative supra_sf HP:0011354 Generalized abnormality of skin Phenotypic_abnormality Moderately Informative supra_sf HP:0003549 Abnormality of connective tissue Phenotypic_abnormality Moderately Informative supra_sf HP:0000366 Abnormality of the nose Phenotypic_abnormality Moderately Informative supra_sf HP:0000765 Abnormality of the thorax Phenotypic_abnormality Moderately Informative supra_sf HP:0040069 Abnormality of lower limb bone Phenotypic_abnormality Moderately Informative supra_sf HP:0004328 Abnormality of the anterior segment of the globe Phenotypic_abnormality Moderately Informative supra_sf HP:0002977 Aplasia/Hypoplasia involving the central nervous system Phenotypic_abnormality Moderately Informative supra_sf HP:0000818 Abnormality of the endocrine system Phenotypic_abnormality Moderately Informative supra_sf HP:0012647 Abnormal inflammatory response Phenotypic_abnormality Moderately Informative supra_sf HP:0002597 Abnormality of the vasculature Phenotypic_abnormality Moderately Informative supra_sf HP:0002664 Neoplasm Phenotypic_abnormality Moderately Informative supra_sf HP:0002683 Abnormality of the calvaria Phenotypic_abnormality Moderately Informative supra_sf HP:0002960 Autoimmunity Phenotypic_abnormality Moderately Informative supra_sf HP:0002088 Abnormality of the lung Phenotypic_abnormality Moderately Informative supra_sf HP:0000359 Abnormality of the inner ear Phenotypic_abnormality Moderately Informative supra_sf HP:0003330 Abnormal bone structure Phenotypic_abnormality Moderately Informative supra_sf HP:0000370 Abnormality of the middle ear Phenotypic_abnormality Moderately Informative supra_sf HP:0005368 Abnormality of humoral immunity Phenotypic_abnormality Moderately Informative supra_sf HP:0004329 Abnormality of the posterior segment of the globe Phenotypic_abnormality Moderately Informative supra_sf HP:0004323 Abnormality of body weight Phenotypic_abnormality Moderately Informative supra_sf HP:0011805 Abnormality of muscle morphology Phenotypic_abnormality Moderately Informative supra_sf HP:0011442 Abnormality of central motor function Phenotypic_abnormality Moderately Informative supra_sf HP:0012373 Abnormal eye physiology Phenotypic_abnormality Moderately Informative supra_sf HP:0000545 Myopia Phenotypic_abnormality Informative supra_sf HP:0011675 Arrhythmia Phenotypic_abnormality Informative supra_sf HP:0100763 Abnormality of the lymphatic system Phenotypic_abnormality Informative supra_sf HP:0000505 Visual impairment Phenotypic_abnormality Informative supra_sf HP:0000008 Abnormality of female internal genitalia Phenotypic_abnormality Informative supra_sf HP:0002644 Abnormality of pelvic girdle bone morphology Phenotypic_abnormality Informative supra_sf HP:0011004 Abnormality of the systemic arterial tree Phenotypic_abnormality Informative supra_sf HP:0000159 Abnormality of the lip Phenotypic_abnormality Informative supra_sf HP:0004370 Abnormality of temperature regulation Phenotypic_abnormality Informative supra_sf HP:0004322 Short stature Phenotypic_abnormality Informative supra_sf HP:0001881 Abnormality of leukocytes Phenotypic_abnormality Informative supra_sf HP:0100543 Cognitive impairment Phenotypic_abnormality Informative supra_sf HP:0001633 Abnormality of the mitral valve Phenotypic_abnormality Informative supra_sf HP:0006493 Aplasia/hypoplasia involving bones of the lower limbs Phenotypic_abnormality Informative supra_sf HP:0001324 Muscle weakness Phenotypic_abnormality Informative supra_sf HP:0001250 Seizures Phenotypic_abnormality Informative supra_sf HP:0000290 Abnormality of the forehead Phenotypic_abnormality Informative supra_sf HP:0011355 Localized skin lesion Phenotypic_abnormality Informative supra_sf HP:0000759 Abnormal peripheral nervous system morphology Phenotypic_abnormality Informative supra_sf HP:0002650 Scoliosis Phenotypic_abnormality Informative supra_sf HP:0011458 Abdominal symptom Phenotypic_abnormality Informative supra_sf HP:0001892 Abnormal bleeding Phenotypic_abnormality Informative supra_sf HP:0012575 Abnormality of the nephron Phenotypic_abnormality Informative supra_sf HP:0011927 Short digit Phenotypic_abnormality Informative supra_sf HP:0000032 Abnormality of male external genitalia Phenotypic_abnormality Informative supra_sf HP:0005607 Abnormality of the tracheobronchial system Phenotypic_abnormality Informative supra_sf HP:0012718 Morphological abnormality of the gastrointestinal tract Phenotypic_abnormality Informative supra_sf HP:0000174 Abnormality of the palate Phenotypic_abnormality Informative supra_sf HP:0011017 Abnormality of cell physiology Phenotypic_abnormality Informative supra_sf HP:0009127 Abnormality of the musculature of the limbs Phenotypic_abnormality Informative supra_sf HP:0001999 Abnormal facial shape Phenotypic_abnormality Informative supra_sf HP:0004354 Abnormality of carboxylic acid metabolism Phenotypic_abnormality Informative supra_sf HP:0012758 Neurodevelopmental delay Phenotypic_abnormality Informative supra_sf HP:0009553 Abnormality of the hairline Phenotypic_abnormality Informative supra_sf HP:0011947 Respiratory tract infection Phenotypic_abnormality Informative supra_sf HP:0002725 Systemic lupus erythematosus Phenotypic_abnormality Informative supra_sf HP:0004299 Hernia of the abdominal wall Phenotypic_abnormality Informative supra_sf HP:0004372 Reduced consciousness/confusion Phenotypic_abnormality Informative supra_sf HP:0002493 Upper motor neuron dysfunction Phenotypic_abnormality Informative supra_sf HP:0001941 Acidosis Phenotypic_abnormality Informative supra_sf HP:0002438 Cerebellar malformation Phenotypic_abnormality Informative supra_sf HP:0000496 Abnormality of eye movement Phenotypic_abnormality Informative supra_sf HP:0000083 Renal insufficiency Phenotypic_abnormality Informative supra_sf HP:0001832 Abnormality of the metatarsal bones Phenotypic_abnormality Informative supra_sf HP:0001637 Abnormality of the myocardium Phenotypic_abnormality Informative supra_sf HP:0011450 CNS infection Phenotypic_abnormality Informative supra_sf HP:0000240 Abnormality of skull size Phenotypic_abnormality Informative supra_sf HP:0008373 Puberty and gonadal disorders Phenotypic_abnormality Informative supra_sf HP:0001551 Abnormality of the umbilicus Phenotypic_abnormality Informative supra_sf HP:0000481 Abnormality of the cornea Phenotypic_abnormality Informative supra_sf HP:0003110 Abnormality of urine homeostasis Phenotypic_abnormality Informative supra_sf HP:0001252 Muscular hypotonia Phenotypic_abnormality Informative supra_sf HP:0040070 Abnormality of upper limb bone Phenotypic_abnormality Informative supra_sf HP:0000356 Abnormality of the outer ear Phenotypic_abnormality Informative supra_sf HP:0002167 Neurological speech impairment Phenotypic_abnormality Informative supra_sf HP:0010938 Abnormality of the external nose Phenotypic_abnormality Informative supra_sf HP:0003468 Abnormality of the vertebrae Phenotypic_abnormality Informative supra_sf HP:0005561 Abnormality of bone marrow cell morphology Phenotypic_abnormality Informative supra_sf HP:0001597 Abnormality of the nail Phenotypic_abnormality Informative supra_sf HP:0000464 Abnormality of the neck Phenotypic_abnormality Informative supra_sf HP:0001780 Abnormality of toe Phenotypic_abnormality Informative supra_sf HP:0004325 Decreased body weight Phenotypic_abnormality Informative supra_sf HP:0011014 Abnormal glucose homeostasis Phenotypic_abnormality Informative supra_sf HP:0100886 Abnormality of globe location Phenotypic_abnormality Informative supra_sf HP:0001371 Flexion contracture Phenotypic_abnormality Informative supra_sf HP:0000962 Hyperkeratosis Phenotypic_abnormality Informative supra_sf HP:0003119 Abnormality of lipid metabolism Phenotypic_abnormality Informative supra_sf HP:0001083 Ectopia lentis Phenotypic_abnormality Informative supra_sf HP:0000518 Cataract Phenotypic_abnormality Informative supra_sf HP:0004414 Abnormality of the pulmonary artery Phenotypic_abnormality Informative supra_sf HP:0001288 Gait disturbance Phenotypic_abnormality Informative supra_sf HP:0001547 Abnormality of the rib cage Phenotypic_abnormality Informative supra_sf HP:0010936 Abnormality of the lower urinary tract Phenotypic_abnormality Informative supra_sf HP:0001249 Intellectual disability Phenotypic_abnormality Informative supra_sf HP:0001643 Patent ductus arteriosus Phenotypic_abnormality Informative supra_sf HP:0002719 Recurrent infections Phenotypic_abnormality Informative supra_sf HP:0011830 Abnormality of oral mucosa Phenotypic_abnormality Informative supra_sf HP:0001629 Ventricular septal defect Phenotypic_abnormality Informative supra_sf HP:0000479 Abnormality of the retina Phenotypic_abnormality Informative supra_sf HP:0000347 Micrognathia Phenotypic_abnormality Informative supra_sf HP:0000123 Nephritis Phenotypic_abnormality Informative supra_sf HP:0004349 Reduced bone mineral density Phenotypic_abnormality Informative supra_sf HP:0001631 Atria septal defect Phenotypic_abnormality Informative supra_sf HP:0030236 Abnormality of muscle size Phenotypic_abnormality Informative supra_sf HP:0011356 Regional abnormality of skin Phenotypic_abnormality Informative supra_sf HP:0009767 Aplasia/Hypoplasia of the phalanges of the hand Phenotypic_abnormality Informative supra_sf HP:0011362 Abnormal hair quantity Phenotypic_abnormality Informative supra_sf HP:0005105 Abnormal nasal morphology Phenotypic_abnormality Informative supra_sf HP:0011276 Vascular skin abnormality Phenotypic_abnormality Informative supra_sf HP:0011314 Abnormality of long bone morphology Phenotypic_abnormality Informative supra_sf HP:0004431 Complement deficiency Phenotypic_abnormality Informative supra_sf HP:0001172 Abnormality of the thumb Phenotypic_abnormality Informative supra_sf HP:0002157 Azotemia Phenotypic_abnormality Informative supra_sf HP:0009832 Abnormality of the distal phalanx of finger Phenotypic_abnormality Informative supra_sf HP:0001311 Abnormal nervous system electrophysiology Phenotypic_abnormality Informative supra_sf HP:0000553 Abnormality of the uvea Phenotypic_abnormality Informative supra_sf HP:0002538 Abnormality of the cerebral cortex Phenotypic_abnormality Informative supra_sf HP:0008056 Aplasia/Hypoplasia affecting the eye Phenotypic_abnormality Informative supra_sf HP:0000248 Brachycephaly Phenotypic_abnormality Informative supra_sf HP:0004297 Abnormality of the biliary system Phenotypic_abnormality Informative supra_sf HP:0002808 Kyphosis Phenotypic_abnormality Informative supra_sf HP:0000405 Conductive hearing impairment Phenotypic_abnormality Informative supra_sf HP:0000422 Abnormality of the nasal bridge Phenotypic_abnormality Informative supra_sf HP:0000407 Sensorineural hearing impairment Phenotypic_abnormality Informative supra_sf HP:0001646 Abnormality of the aortic valve Phenotypic_abnormality Informative supra_sf HP:0000708 Behavioral abnormality Phenotypic_abnormality Informative supra_sf HP:0001872 Abnormality of thrombocytes Phenotypic_abnormality Informative supra_sf HP:0008050 Abnormality of the palpebral fissures Phenotypic_abnormality Informative supra_sf HP:0000080 Abnormality of reproductive system physiology Phenotypic_abnormality Informative supra_sf HP:0000782 Abnormality of the scapula Phenotypic_abnormality Informative supra_sf HP:0003271 Visceromegaly Phenotypic_abnormality Informative supra_sf HP:0003307 Hyperlordosis Phenotypic_abnormality Informative supra_sf HP:0030453 Abnormal visual electrophysiology Phenotypic_abnormality Informative supra_sf HP:0011792 Neoplasm by histology Phenotypic_abnormality Informative supra_sf HP:0002793 Abnormal pattern of respiration Phenotypic_abnormality Informative supra_sf HP:0002823 Abnormality of the femur Phenotypic_abnormality Informative supra_sf HP:0004673 Decreased facial expression Phenotypic_abnormality Informative supra_sf HP:0002269 Abnormality of neuronal migration Phenotypic_abnormality Informative supra_sf HP:0001315 Reduced tendon reflexes Phenotypic_abnormality Highly Informative supra_sf HP:0002360 Sleep disturbance Phenotypic_abnormality Highly Informative supra_sf HP:0001642 Pulmonic stenosis Phenotypic_abnormality Highly Informative supra_sf HP:0001969 Tubulointerstitial abnormality Phenotypic_abnormality Highly Informative supra_sf HP:0008065 Aplasia/Hypoplasia of the skin Phenotypic_abnormality Highly Informative supra_sf HP:0001435 Abnormality of the shoulder girdle musculature Phenotypic_abnormality Highly Informative supra_sf HP:0000987 Atypical scarring of skin Phenotypic_abnormality Highly Informative supra_sf HP:0007359 Focal seizures Phenotypic_abnormality Highly Informative supra_sf HP:0002747 Respiratory insufficiency due to muscle weakness Phenotypic_abnormality Highly Informative supra_sf HP:0003325 Limb-girdle muscle weakness Phenotypic_abnormality Highly Informative supra_sf HP:0000137 Abnormality of the ovary Phenotypic_abnormality Highly Informative supra_sf HP:0011123 Inflammatory abnormality of the skin Phenotypic_abnormality Highly Informative supra_sf HP:0001678 Atrioventricular block Phenotypic_abnormality Highly Informative supra_sf HP:0100755 Abnormality of salivation Phenotypic_abnormality Highly Informative supra_sf HP:0001283 Bulbar palsy Phenotypic_abnormality Highly Informative supra_sf HP:0000772 Abnormality of the ribs Phenotypic_abnormality Highly Informative supra_sf HP:0000729 Autistic behavior Phenotypic_abnormality Highly Informative supra_sf HP:0009768 Broad phalanges of the hand Phenotypic_abnormality Highly Informative supra_sf HP:0002818 Abnormality of the radius Phenotypic_abnormality Highly Informative supra_sf HP:0000357 Abnormal location of ears Phenotypic_abnormality Highly Informative supra_sf HP:0003128 Lactic acidosis Phenotypic_abnormality Highly Informative supra_sf HP:0002353 EEG abnormality Phenotypic_abnormality Highly Informative supra_sf HP:0000054 Micropenis Phenotypic_abnormality Highly Informative supra_sf HP:0006292 Abnormality of dental eruption Phenotypic_abnormality Highly Informative supra_sf HP:0005420 Recurrent gram-negative bacterial infections Phenotypic_abnormality Highly Informative supra_sf HP:0001254 Lethargy Phenotypic_abnormality Highly Informative supra_sf HP:0009602 Abnormality of thumb phalanx Phenotypic_abnormality Highly Informative supra_sf HP:0000429 Abnormality of the nasal alae Phenotypic_abnormality Highly Informative supra_sf HP:0000608 Macular degeneration Phenotypic_abnormality Highly Informative supra_sf HP:0003366 Abnormality of the femoral neck or head region Phenotypic_abnormality Highly Informative supra_sf HP:0000135 Hypogonadism Phenotypic_abnormality Highly Informative supra_sf HP:0001874 Abnormality of neutrophils Phenotypic_abnormality Highly Informative supra_sf HP:0001397 Hepatic steatosis Phenotypic_abnormality Highly Informative supra_sf HP:0000944 Abnormality of the metaphyses Phenotypic_abnormality Highly Informative supra_sf HP:0001105 Retinal atrophy Phenotypic_abnormality Highly Informative supra_sf HP:0002374 Diminished movement Phenotypic_abnormality Highly Informative supra_sf HP:0010929 Abnormality of cation homeostasis Phenotypic_abnormality Highly Informative supra_sf HP:0001256 Intellectual disability, mild Phenotypic_abnormality Highly Informative supra_sf HP:0000864 Abnormality of the hypothalamus-pituitary axis Phenotypic_abnormality Highly Informative supra_sf HP:0000548 Cone/cone-rod dystrophy Phenotypic_abnormality Highly Informative supra_sf HP:0003287 Abnormality of mitochondrial metabolism Phenotypic_abnormality Highly Informative supra_sf HP:0000568 Microphthalmia Phenotypic_abnormality Highly Informative supra_sf HP:0100360 Contractures of the joints of the upper limbs Phenotypic_abnormality Highly Informative supra_sf HP:0002921 Abnormality of the cerebrospinal fluid Phenotypic_abnormality Highly Informative supra_sf HP:0008062 Aplasia/Hypoplasia affecting the anterior segment of the eye Phenotypic_abnormality Highly Informative supra_sf HP:0004375 Neoplasm of the nervous system Phenotypic_abnormality Highly Informative supra_sf HP:0002209 Sparse scalp hair Phenotypic_abnormality Highly Informative supra_sf HP:0010468 Aplasia/Hypoplasia of the testes Phenotypic_abnormality Highly Informative supra_sf HP:0002143 Abnormality of the spinal cord Phenotypic_abnormality Highly Informative supra_sf HP:0000009 Functional abnormality of the bladder Phenotypic_abnormality Highly Informative supra_sf HP:0004302 Functional motor problems Phenotypic_abnormality Highly Informative supra_sf HP:0008180 Mildly elevated creatine phosphokinase Phenotypic_abnormality Highly Informative supra_sf HP:0004447 Poikilocytosis Phenotypic_abnormality Highly Informative supra_sf HP:0003259 Elevated serum creatinine Phenotypic_abnormality Highly Informative supra_sf HP:0010787 Genital neoplasm Phenotypic_abnormality Highly Informative supra_sf HP:0001263 Global developmental delay Phenotypic_abnormality Highly Informative supra_sf HP:0001744 Splenomegaly Phenotypic_abnormality Highly Informative supra_sf HP:0001430 Abnormality of the calf musculature Phenotypic_abnormality Highly Informative supra_sf HP:0000218 High palate Phenotypic_abnormality Highly Informative supra_sf HP:0000175 Cleft palate Phenotypic_abnormality Highly Informative supra_sf HP:0000580 Pigmentary retinopathy Phenotypic_abnormality Highly Informative supra_sf HP:0012590 Abnormal urine output Phenotypic_abnormality Highly Informative supra_sf HP:0001873 Thrombocytopenia Phenotypic_abnormality Highly Informative supra_sf HP:0000662 Nyctalopia Phenotypic_abnormality Highly Informative supra_sf HP:0000549 Abnormal conjugate eye movement Phenotypic_abnormality Highly Informative supra_sf HP:0002242 Abnormality of the intestine Phenotypic_abnormality Highly Informative supra_sf HP:0040195 Decreased head circumference Phenotypic_abnormality Highly Informative supra_sf HP:0002031 Abnormality of the esophagus Phenotypic_abnormality Highly Informative supra_sf HP:0001600 Abnormality of the larynx Phenotypic_abnormality Highly Informative supra_sf HP:0003312 Abnormal form of the vertebral bodies Phenotypic_abnormality Highly Informative supra_sf HP:0000587 Abnormality of the optic nerve Phenotypic_abnormality Highly Informative supra_sf HP:0011495 Abnormality of corneal epithelium Phenotypic_abnormality Highly Informative supra_sf HP:0000529 Progressive visual loss Phenotypic_abnormality Highly Informative supra_sf HP:0000130 Abnormality of the uterus Phenotypic_abnormality Highly Informative supra_sf HP:0006482 Abnormality of dental morphology Phenotypic_abnormality Highly Informative supra_sf HP:0100242 Sarcoma Phenotypic_abnormality Highly Informative supra_sf HP:0009830 Peripheral neuropathy Phenotypic_abnormality Highly Informative supra_sf HP:0003202 Skeletal muscle atrophy Phenotypic_abnormality Highly Informative supra_sf HP:0010701 Abnormal immunoglobulin level Phenotypic_abnormality Highly Informative supra_sf HP:0000140 Abnormality of the menstrual cycle Phenotypic_abnormality Highly Informative supra_sf HP:0001878 Hemolytic anemia Phenotypic_abnormality Highly Informative supra_sf HP:0012614 Abnormal urine cytology Phenotypic_abnormality Highly Informative supra_sf HP:0100533 Inflammatory abnormality of the eye Phenotypic_abnormality Highly Informative supra_sf HP:0002104 Apnea Phenotypic_abnormality Highly Informative supra_sf HP:0005180 Tricuspid regurgitation Phenotypic_abnormality Highly Informative supra_sf HP:0007641 Dyschromatopsia Phenotypic_abnormality Highly Informative supra_sf HP:0000975 Hyperhidrosis Phenotypic_abnormality Highly Informative supra_sf HP:0001513 Obesity Phenotypic_abnormality Highly Informative supra_sf HP:0011061 Abnormality of dental structure Phenotypic_abnormality Highly Informative supra_sf HP:0000157 Abnormality of the tongue Phenotypic_abnormality Highly Informative supra_sf HP:0010549 Weakness due to upper motor neuron dysfunction Phenotypic_abnormality Highly Informative supra_sf HP:0000952 Jaundice Phenotypic_abnormality Highly Informative supra_sf HP:0200007 Abnormal size of the palpebral fissures Phenotypic_abnormality Highly Informative supra_sf HP:0000499 Abnormality of the eyelashes Phenotypic_abnormality Highly Informative supra_sf HP:0009804 Reduced number of teeth Phenotypic_abnormality Highly Informative supra_sf HP:0001260 Dysarthria Phenotypic_abnormality Highly Informative supra_sf HP:0004359 Abnormality of fatty-acid metabolism Phenotypic_abnormality Highly Informative supra_sf HP:0001163 Abnormality of the metacarpal bones Phenotypic_abnormality Highly Informative supra_sf HP:0030177 Abnormality of peripheral nervous system electrophysiology Phenotypic_abnormality Highly Informative supra_sf HP:0000599 Abnormality of the frontal hairline Phenotypic_abnormality Highly Informative supra_sf HP:0011006 Abnormality of the musculature of the neck Phenotypic_abnormality Highly Informative supra_sf HP:0001923 Reticulocytosis Phenotypic_abnormality Highly Informative supra_sf HP:0003470 Paralysis Phenotypic_abnormality Highly Informative supra_sf HP:0006505 Abnormality of limb epiphysis morphology Phenotypic_abnormality Highly Informative supra_sf HP:0003198 Myopathy Phenotypic_abnormality Highly Informative supra_sf HP:0000793 Membranoproliferative glomerulonephritis Phenotypic_abnormality Highly Informative supra_sf HP:0005575 Hemolytic-uremic syndrome Phenotypic_abnormality Highly Informative supra_sf HP:0000327 Hypoplasia of the maxilla Phenotypic_abnormality Highly Informative supra_sf HP:0002733 Abnormality of the lymph nodes Phenotypic_abnormality Highly Informative supra_sf HP:0008067 Abnormally lax or hyperextensible skin Phenotypic_abnormality Highly Informative supra_sf HP:0001080 Biliary tract abnormality Phenotypic_abnormality Highly Informative supra_sf HP:0003138 Increased blood urea nitrogen (BUN) Phenotypic_abnormality Highly Informative supra_sf HP:0040194 Increased head circumference Phenotypic_abnormality Highly Informative supra_sf HP:0100240 Synostosis of joints Phenotypic_abnormality Highly Informative supra_sf HP:0002239 Gastrointestinal hemorrhage Phenotypic_abnormality Highly Informative supra_sf HP:0030466 Abnormal full-field electroretinogram Phenotypic_abnormality Highly Informative supra_sf HP:0002577 Abnormality of the stomach Phenotypic_abnormality Highly Informative supra_sf HP:0002357 Dysphasia Phenotypic_abnormality Highly Informative supra_sf HP:0003077 Hyperlipidemia Phenotypic_abnormality Highly Informative supra_sf HP:0012115 Hepatitis Phenotypic_abnormality Highly Informative supra_sf HP:0002633 Vasculitis Phenotypic_abnormality Highly Informative supra_sf HP:0001399 Hepatic failure Phenotypic_abnormality Highly Informative supra_sf HP:0001006 Hypotrichosis Phenotypic_abnormality Highly Informative supra_sf HP:0000600 Abnormality of the pharynx Phenotypic_abnormality Highly Informative supra_sf HP:0001928 Abnormality of coagulation Phenotypic_abnormality Highly Informative supra_sf HP:0012368 Flat face Phenotypic_abnormality Highly Informative supra_sf HP:0001395 Hepatic fibrosis Phenotypic_abnormality Highly Informative supra_sf HP:0007663 Reduced visual acuity Phenotypic_abnormality Highly Informative supra_sf HP:0001987 Hyperammonemia Phenotypic_abnormality Highly Informative supra_sf HP:0011733 Abnormality of adrenal physiology Phenotypic_abnormality Highly Informative supra_sf HP:0001369 Arthritis Phenotypic_abnormality Highly Informative supra_sf HP:0001558 Decreased fetal movement Phenotypic_abnormality Highly Informative supra_sf HP:0002804 Arthrogryposis multiplex congenita Phenotypic_abnormality Highly Informative supra_sf HP:0007378 Neoplasm of the gastrointestinal tract Phenotypic_abnormality Highly Informative supra_sf HP:0001347 Hyperreflexia Phenotypic_abnormality Highly Informative supra_sf HP:0012447 Abnormal myelination Phenotypic_abnormality Highly Informative supra_sf HP:0001276 Hypertonia Phenotypic_abnormality Highly Informative supra_sf HP:0012043 Pendular nystagmus Phenotypic_abnormality Highly Informative supra_sf HP:0000316 Hypertelorism Phenotypic_abnormality Highly Informative supra_sf HP:0001384 Abnormality of the hip joint Phenotypic_abnormality Highly Informative supra_sf HP:0001141 Severe visual impairment Phenotypic_abnormality Highly Informative supra_sf HP:0005750 Contractures of the joints of the lower limbs Phenotypic_abnormality Highly Informative supra_sf HP:0000678 Dental crowding Phenotypic_abnormality Highly Informative supra_sf HP:0000142 Abnormality of the vagina Phenotypic_abnormality Highly Informative supra_sf HP:0010161 Abnormality of the phalanges of the toes Phenotypic_abnormality Highly Informative supra_sf HP:0003422 Vertebral segmentation defect Phenotypic_abnormality Highly Informative supra_sf HP:0001518 Small for gestational age Phenotypic_abnormality Highly Informative supra_sf HP:0004305 Involuntary movements Phenotypic_abnormality Highly Informative supra_sf HP:0002334 Abnormality of the cerebellar vermis Phenotypic_abnormality Highly Informative supra_sf HP:0012090 Abnormality of pancreas morphology Phenotypic_abnormality Highly Informative supra_sf HP:0008020 Progressive cone degeneration Phenotypic_abnormality Highly Informative supra_sf HP:0011339 Abnormality of upper lip vermillion Phenotypic_abnormality Highly Informative supra_sf HP:0001724 Aortic dilatation Phenotypic_abnormality Highly Informative supra_sf HP:0002270 Abnormality of the autonomic nervous system Phenotypic_abnormality Highly Informative supra_sf HP:0001919 Acute kidney injury Phenotypic_abnormality Highly Informative supra_sf HP:0000541 Retinal detachment Phenotypic_abnormality Highly Informative supra_sf HP:0002098 Respiratory distress Phenotypic_abnormality Highly Informative supra_sf HP:0030044 Flexion contracture of digit Phenotypic_abnormality Highly Informative supra_sf HP:0000618 Blindness Phenotypic_abnormality Highly Informative supra_sf HP:0000306 Abnormality of the chin Phenotypic_abnormality Highly Informative supra_sf HP:0002536 Abnormal cortical gyration Phenotypic_abnormality Highly Informative supra_sf HP:0011843 Abnormality of skeletal physiology Phenotypic_abnormality Highly Informative supra_sf HP:0011329 Abnormality of cranial sutures Phenotypic_abnormality Highly Informative supra_sf HP:0002197 Generalized seizures Phenotypic_abnormality Highly Informative supra_sf HP:0001712 Left ventricular hypertrophy Phenotypic_abnormality Highly Informative supra_sf HP:0012531 Pain Phenotypic_abnormality Highly Informative supra_sf HP:0000525 Abnormality of the iris Phenotypic_abnormality Highly Informative supra_sf HP:0003457 EMG abnormality Phenotypic_abnormality Highly Informative supra_sf HP:0003117 Abnormality of circulating hormone level Phenotypic_abnormality Highly Informative supra_sf HP:0001647 Bicuspid aortic valve Phenotypic_abnormality Highly Informative supra_sf HP:0001977 Abnormal thrombosis Phenotypic_abnormality Highly Informative supra_sf HP:0011443 Abnormality of coordination Phenotypic_abnormality Highly Informative supra_sf HP:0002014 Diarrhea Phenotypic_abnormality Highly Informative supra_sf HP:0003319 Abnormality of the cervical spine Phenotypic_abnormality Highly Informative supra_sf HP:0008066 Abnormal blistering of the skin Phenotypic_abnormality Highly Informative supra_sf HP:0004303 Abnormality of muscle fibers Phenotypic_abnormality Highly Informative supra_sf HP:0040211 Abnormality of the skin of the palm Phenotypic_abnormality Highly Informative supra_sf HP:0000534 Abnormality of the eyebrow Phenotypic_abnormality Highly Informative supra_sf HP:0009810 Abnormality of upper limb joint Phenotypic_abnormality Highly Informative supra_sf HP:0000168 Abnormality of the gingiva Phenotypic_abnormality Highly Informative supra_sf HP:0001644 Dilated cardiomyopathy Phenotypic_abnormality Highly Informative supra_sf HP:0100659 Abnormality of the cerebral vasculature Phenotypic_abnormality Highly Informative supra_sf HP:0000377 Abnormality of the pinna Phenotypic_abnormality Highly Informative supra_sf HP:0007364 Aplasia/Hypoplasia of the cerebrum Phenotypic_abnormality Highly Informative supra_sf HP:0002829 Arthralgia Phenotypic_abnormality Highly Informative supra_sf HP:0001259 Coma Phenotypic_abnormality Highly Informative supra_sf HP:0001000 Abnormality of skin pigmentation Phenotypic_abnormality Highly Informative supra_sf HP:0011710 Bundle branch block Phenotypic_abnormality Highly Informative supra_sf HP:0000774 Narrow chest Phenotypic_abnormality Highly Informative supra_sf HP:0000431 Wide nasal bridge Phenotypic_abnormality Highly Informative supra_sf HP:0010766 Ectopic calcification Phenotypic_abnormality Highly Informative supra_sf HP:0002460 Distal muscle weakness Phenotypic_abnormality Highly Informative supra_sf HP:0001945 Fever Phenotypic_abnormality Highly Informative supra_sf HP:0002133 Status epilepticus Phenotypic_abnormality Highly Informative supra_sf HP:0000982 Palmoplantar keratoderma Phenotypic_abnormality Highly Informative supra_sf HP:0001696 Situs inversus totalis Phenotypic_abnormality Highly Informative supra_sf HP:0001824 Weight loss Phenotypic_abnormality Highly Informative supra_sf HP:0000769 Abnormality of the breast Phenotypic_abnormality Highly Informative supra_sf HP:0007556 Plantar hyperkeratosis Phenotypic_abnormality Highly Informative supra_sf HP:0001833 Long foot Phenotypic_abnormality Highly Informative supra_sf HP:0005978 Type II diabetes mellitus Phenotypic_abnormality Highly Informative supra_sf HP:0002363 Abnormality of brainstem morphology Phenotypic_abnormality Highly Informative supra_sf HP:0008872 Feeding difficulties in infancy Phenotypic_abnormality Highly Informative supra_sf HP:0000795 Abnormality of the urethra Phenotypic_abnormality Highly Informative supra_sf HP:0003712 Skeletal muscle hypertrophy Phenotypic_abnormality Highly Informative supra_sf HP:0000025 Functional abnormality of male internal genitalia Phenotypic_abnormality Highly Informative supra_sf HP:0003326 Myalgia Phenotypic_abnormality Highly Informative supra_sf HP:0009826 Limb undergrowth Phenotypic_abnormality Highly Informative supra_sf HP:0000098 Tall stature Phenotypic_abnormality Highly Informative supra_sf HP:0004097 Deviation of finger Phenotypic_abnormality Highly Informative supra_sf HP:0001382 Joint hypermobility Phenotypic_abnormality Highly Informative supra_sf HP:0007375 Abnormality of the septum pellucidum Phenotypic_abnormality Highly Informative supra_sf HP:0006261 Abnormality of phalangeal joints of the hand Phenotypic_abnormality Highly Informative supra_sf HP:0010786 Urinary tract neoplasm Phenotypic_abnormality Highly Informative supra_sf HP:0040066 Abnormal morphology of bones of the lower limbs Phenotypic_abnormality Highly Informative supra_sf HP:0000873 Diabetes insipidus Phenotypic_abnormality Highly Informative supra_sf HP:0002321 Vertigo Phenotypic_abnormality Highly Informative supra_sf HP:0000712 Emotional lability Phenotypic_abnormality Highly Informative supra_sf HP:0011146 Dialeptic seizures Phenotypic_abnormality Highly Informative supra_sf HP:0000275 Narrow face Phenotypic_abnormality Highly Informative supra_sf HP:0004408 Abnormality of the sense of smell Phenotypic_abnormality Highly Informative supra_sf HP:0000589 Coloboma Phenotypic_abnormality Highly Informative supra_sf HP:0000938 Osteopenia Phenotypic_abnormality Highly Informative supra_sf HP:0002373 Febrile seizures Phenotypic_abnormality Highly Informative supra_sf HP:0007367 Atrophy/Degeneration affecting the central nervous system Phenotypic_abnormality Highly Informative supra_sf HP:0002981 Abnormality of the calf Phenotypic_abnormality Highly Informative supra_sf HP:0002219 Facial hypertrichosis Phenotypic_abnormality Highly Informative supra_sf HP:0007759 Opacification of the corneal stroma Phenotypic_abnormality Highly Informative supra_sf HP:0001992 Organic aciduria Phenotypic_abnormality Highly Informative supra_sf HP:0011119 Abnormality of the nasal dorsum Phenotypic_abnormality Highly Informative supra_sf HP:0012732 Anorectal anomaly Phenotypic_abnormality Highly Informative supra_sf HP:0005288 Abnormality of the nares Phenotypic_abnormality Highly Informative supra_sf HP:0002062 Morphological abnormality of the pyramidal tract Phenotypic_abnormality Highly Informative supra_sf HP:0010993 Abnormality of the cerebral subcortex Phenotypic_abnormality Highly Informative supra_sf HP:0000751 Personality changes Phenotypic_abnormality Highly Informative supra_sf HP:0001290 Generalized hypotonia Phenotypic_abnormality Highly Informative supra_sf HP:0003355 Aminoaciduria Phenotypic_abnormality Highly Informative supra_sf HP:0001337 Tremor Phenotypic_abnormality Highly Informative supra_sf HP:0001961 Hypoplastic heart Phenotypic_abnormality Highly Informative supra_sf HP:0007417 Discoid lupus erythematosus Phenotypic_abnormality Highly Informative supra_sf HP:0004377 Hematological neoplasm Phenotypic_abnormality Highly Informative supra_sf HP:0001268 Mental deterioration Phenotypic_abnormality Highly Informative supra_sf HP:0003324 Generalized muscle weakness Phenotypic_abnormality Highly Informative supra_sf HP:0100578 Lipoatrophy Phenotypic_abnormality Highly Informative supra_sf HP:0005927 Aplasia/hypoplasia involving bones of the hand Phenotypic_abnormality Highly Informative supra_sf HP:0001608 Abnormality of the voice Phenotypic_abnormality Highly Informative supra_sf HP:0001156 Brachydactyly syndrome Phenotypic_abnormality Highly Informative supra_sf HP:0003560 Muscular dystrophy Phenotypic_abnormality Highly Informative supra_sf HP:0008386 Aplasia/Hypoplasia of the nails Phenotypic_abnormality Highly Informative supra_sf HP:0001376 Limitation of joint mobility Phenotypic_abnormality Highly Informative supra_sf HP:0011001 Increased bone mineral density Phenotypic_abnormality Highly Informative supra_sf HP:0002118 Abnormality of the cerebral ventricles Phenotypic_abnormality Highly Informative supra_sf HP:0003774 Stage 5 chronic kidney disease Phenotypic_abnormality Highly Informative supra_sf HP:0000969 Edema Phenotypic_abnormality Highly Informative