General HPO terms

Our heuristic for avoiding unnecessary statistical tests (See Multiple-testing correction) skips HPO terms that are unlikely to lead to interesting results on statistical testing. This is a domain judgment rather than a statistical one. The HPO is hierarchically arranged from general to specific, and the more specific a term is, the more interest we deem a significant genotype phenotype correlation to be. Therefore, we decide not to test terms such as Abnormality of the endocrine system (HP:0000818). The top-level term Phenotypic abnormality (HP:0000118) is the root of all phenotypic abnormality terms, and we refer to the children of this term as level 1.

Most of the HPO is arranged according to morphological abnormalities (a structural abnormality) and physiological abnormalities. Therefore, the above term has the children Abnormal endocrine physiology (HP:0031072) and Abnormal endocrine morphology (HP:0031071). We consider these terms to be uninteresting for the same reason - they are too general to bring much medical insight, and we expect that if there is a signal it will usually be driven by one or more specific terms. We call these terms level 2.

Many but not all terms on level 3 are also “general” in this sense, e.g., Abnormality of the parathyroid gland (HP:0000828). We also skip such level 3 terms. Our HPO MTC filter for identifying these terms is to search the primary label for the word 'Abnormal', and remove all terms that start with this string.

According to the HPO MTC filter strategy (see Multiple-testing correction), we stop at level 3, because the terms at lower levels are more likely to be specific, even if they contain the word “Abnormal” or “Abnormality” in their label. Users can adapt the procedure if desired.

The following table shows a list of HPO terms that are removed from consideration by the HPO MTC filter strategy.

level	Term Id	Label
level 1	HP:0002664	Neoplasm
level 1	HP:0001574	Abnormality of the integument
level 1	HP:0040064	Abnormality of limbs
level 1	HP:0001871	Abnormality of blood and blood-forming tissues
level 1	HP:0000598	Abnormality of the ear
level 1	HP:0001197	Abnormality of prenatal development or birth
level 1	HP:0000818	Abnormality of the endocrine system
level 1	HP:0000119	Abnormality of the genitourinary system
level 1	HP:0045027	Abnormality of the thoracic cavity
level 1	HP:0000478	Abnormality of the eye
level 1	HP:0025142	Constitutional symptom
level 1	HP:0000707	Abnormality of the nervous system
level 1	HP:0033127	Abnormality of the musculoskeletal system
level 1	HP:0001939	Abnormality of metabolism/homeostasis
level 1	HP:0025354	Abnormal cellular phenotype
level 1	HP:0002086	Abnormality of the respiratory system
level 1	HP:0000152	Abnormality of head or neck
level 1	HP:0001507	Growth abnormality
level 1	HP:0000769	Abnormality of the breast
level 1	HP:0002715	Abnormality of the immune system
level 1	HP:0001608	Abnormality of the voice
level 1	HP:0001626	Abnormality of the cardiovascular system
level 1	HP:0025031	Abnormality of the digestive system
level 2	HP:0031094	Abnormal breast physiology
level 2	HP:0045026	Abnormal mediastinum morphology
level 2	HP:0011025	Abnormal cardiovascular system physiology
level 2	HP:0032180	Abnormal circulating metabolite concentration
level 2	HP:0032245	Abnormal metabolism
level 2	HP:0012372	Abnormal eye morphology
level 2	HP:0025461	Abnormal cell morphology
level 2	HP:0000002	Abnormality of body height
level 2	HP:0003110	Abnormality of urine homeostasis
level 2	HP:0001892	Abnormal bleeding
level 2	HP:0012093	Abnormality of endocrine pancreas physiology
level 2	HP:0000777	Abnormal thymus morphology
level 2	HP:3000013	Abnormal platysma muscle morphology
level 2	HP:0032251	Abnormal immune system morphology
level 2	HP:0000079	Abnormality of the urinary system
level 2	HP:0012680	Abnormality of the pineal gland
level 2	HP:0030680	Abnormal cardiovascular system morphology
level 2	HP:0000847	Abnormality of renin-angiotensin system
level 2	HP:0025429	Abnormal cry
level 2	HP:0002597	Abnormality of the vasculature
level 2	HP:0025454	Abnormal CSF metabolite concentration
level 2	HP:0005561	Abnormal bone marrow cell morphology
level 2	HP:0025456	Abnormal CSF protein concentration
level 2	HP:0003549	Abnormality of connective tissue
level 2	HP:0011843	Abnormal musculoskeletal physiology
level 2	HP:0032243	Abnormal tissue metabolite concentration
level 2	HP:0003011	Abnormality of the musculature
level 2	HP:0012639	Abnormal nervous system morphology
level 2	HP:0031704	Abnormal ear physiology
level 2	HP:0002814	Abnormality of the lower limb
level 2	HP:0000834	Abnormality of the adrenal glands
level 2	HP:0004323	Abnormality of body weight
level 2	HP:0000828	Abnormality of the parathyroid gland
level 2	HP:0020169	Abnormal drug response
level 2	HP:0033796	Abnormal leukocyte physiology
level 2	HP:0000078	Abnormality of the genital system
level 2	HP:0001928	Abnormality of coagulation
level 2	HP:0031072	Abnormal endocrine physiology
level 2	HP:0000234	Abnormality of the head
level 2	HP:0025033	Abnormal digestive system morphology
level 2	HP:0002012	Abnormality of the abdominal organs
level 2	HP:0031550	Abnormal flow cytometry test result
level 2	HP:0031093	Abnormal breast morphology
level 2	HP:0001787	Abnormal delivery
level 2	HP:0031703	Abnormal ear morphology
level 2	HP:0031685	Abnormal stool composition
level 2	HP:0034684	Abnormal enzyme concentration or activity
level 2	HP:0001877	Abnormal erythrocyte morphology
level 2	HP:0033334	Abnormal embryonic development
level 2	HP:0002795	Abnormal respiratory system physiology
level 2	HP:0004378	Abnormality of the anus
level 2	HP:0011138	Abnormal skin adnexa morphology
level 2	HP:0003117	Abnormal circulating hormone concentration
level 2	HP:0025021	Abnormal erythrocyte sedimentation rate
level 2	HP:0001872	Abnormality of thrombocytes
level 2	HP:0020054	Abnormal erythrocyte physiology
level 2	HP:0001438	Abnormal abdomen morphology
level 2	HP:0001977	Abnormal thrombosis
level 2	HP:0000924	Abnormality of the skeletal system
level 2	HP:0100763	Abnormality of the lymphatic system
level 2	HP:0000951	Abnormality of the skin
level 2	HP:0025032	Abnormality of digestive system physiology
level 2	HP:0000820	Abnormality of the thyroid gland
level 2	HP:0012029	Abnormal urine hormone level
level 2	HP:0033012	Abnormal salivary metabolite concentration
level 2	HP:0000464	Abnormality of the neck
level 2	HP:0025276	Abnormality of skin adnexa physiology
level 2	HP:0031071	Abnormal endocrine morphology
level 2	HP:0001560	Abnormality of the amniotic fluid
level 2	HP:0011024	Abnormality of the gastrointestinal tract
level 2	HP:0012638	Abnormal nervous system physiology
level 2	HP:0000864	Abnormality of the hypothalamus-pituitary axis
level 2	HP:0009127	Abnormality of the musculature of the limbs
level 2	HP:0410008	Abnormality of the peripheral nervous system
level 2	HP:0010932	Abnormal circulating nucleobase concentration
level 2	HP:0004298	Abnormality of the abdominal wall
level 2	HP:0500015	Abnormal cardiac test
level 2	HP:0012337	Abnormal homeostasis
level 2	HP:0010978	Abnormality of immune system physiology
level 2	HP:0001194	Abnormalities of placenta or umbilical cord
level 2	HP:0012373	Abnormal eye physiology
level 2	HP:0001881	Abnormal leukocyte morphology
level 2	HP:0002817	Abnormality of the upper limb
level 2	HP:0040068	Abnormality of limb bone
level 2	HP:0011017	Abnormal cellular physiology
level 3	HP:0006500	Abnormal lower limb epiphysis morphology
level 3	HP:0004337	Abnormality of amino acid metabolism
level 3	HP:0031409	Abnormal lymphocyte physiology
level 3	HP:0040214	Abnormal circulating insulin concentration
level 3	HP:0034251	Abnormal corneal reflex
level 3	HP:0012772	Abnormal upper to lower segment ratio
level 3	HP:0040231	Abnormal onset of bleeding
level 3	HP:0012379	Abnormal circulating enzyme concentration or activity
level 3	HP:0030875	Abnormality of pulmonary circulation
level 3	HP:0012111	Abnormality of circulating glucocorticoid level
level 3	HP:0100491	Abnormality of lower limb joint
level 3	HP:0002793	Abnormal pattern of respiration
level 3	HP:0012261	Abnormal respiratory motile cilium physiology
level 3	HP:0001597	Abnormality of the nail
level 3	HP:0010881	Abnormality of the umbilical cord
level 3	HP:0025463	Abnormality of redox activity
level 3	HP:0010991	Abnormal morphology of the abdominal musculature
level 3	HP:0020155	Abnormal oocyte morphology
level 3	HP:0010974	Abnormal myeloid leukocyte morphology
level 3	HP:0100705	Abnormal glial cell morphology
level 3	HP:3000050	Abnormal odontoid tissue morphology
level 3	HP:6000231	Abnormal tissue enzyme concentration or activity
level 3	HP:0002981	Abnormality of the calf
level 3	HP:0030956	Abnormality of cardiovascular system electrophysiology
level 3	HP:0031884	Abnormal CSF glucose concentration
level 3	HP:0430071	Abnormal circulating organic compound concentration
level 3	HP:0004352	Abnormal circulating purine concentration
level 3	HP:0012103	Abnormality of the mitochondrion
level 3	HP:0012614	Abnormal urine cytology
level 3	HP:0010969	Abnormality of glycolipid metabolism
level 3	HP:0012718	Abnormal gastrointestinal tract morphology
level 3	HP:0012700	Abnormal large intestine physiology
level 3	HP:0001760	Abnormal foot morphology
level 3	HP:0012131	Abnormal number of erythroid precursors
level 3	HP:0003839	Abnormal upper limb epiphysis morphology
level 3	HP:0010977	Abnormal phagocytosis
level 3	HP:0500019	Abnormal resting energy expenditure from metabolic cart test
level 3	HP:0004329	Abnormal posterior eye segment morphology
level 3	HP:0000539	Abnormality of refraction
level 3	HP:0001311	Abnormal nervous system electrophysiology
level 3	HP:0006529	Abnormal pulmonary lymphatics
level 3	HP:0025668	Abnormal neck morphology
level 3	HP:0012654	Abnormal CSF dopamine concentration
level 3	HP:0004353	Abnormal circulating pyrimidine concentration
level 3	HP:0032367	Abnormal growth hormone level
level 3	HP:0031657	Abnormal heart sound
level 3	HP:0011409	Abnormal placental membrane morphology
level 3	HP:0004371	Abnormality of glycosaminoglycan metabolism
level 3	HP:0000080	Abnormality of reproductive system physiology
level 3	HP:3000036	Abnormal head blood vessel morphology
level 3	HP:0500114	Abnormal stool urobilinogen concentration
level 3	HP:0012640	Abnormality of intracranial pressure
level 3	HP:0030800	Abnormal visual accommodation
level 3	HP:0040085	Abnormal circulating aldosterone
level 3	HP:0002926	Abnormality of thyroid physiology
level 3	HP:0100016	Abnormal mesentery morphology
level 3	HP:0034737	Abnormal erythrocyte metabolite concentration
level 3	HP:0012757	Abnormal neuron morphology
level 3	HP:0025669	Abnormal neck physiology
level 3	HP:0000271	Abnormality of the face
level 3	HP:0000777	Abnormal thymus morphology
level 3	HP:0034482	Abnormal spinal cord physiology
level 3	HP:0011014	Abnormal glucose homeostasis
level 3	HP:0011121	Abnormal skin morphology
level 3	HP:0100536	Abnormality of the fascia
level 3	HP:0031427	Abnormal circulating osteocalcin level
level 3	HP:0011032	Abnormality of fluid regulation
level 3	HP:0020061	Abnormal hemoglobin concentration
level 3	HP:0003220	Abnormality of chromosome stability
level 3	HP:0031508	Abnormal circulating thyroid hormone concentration
level 3	HP:0020058	Abnormal red blood cell count
level 3	HP:0033013	Abnormal salivary cortisol level
level 3	HP:0012591	Abnormal urinary electrolyte concentration
level 3	HP:0500117	Abnormal CSF urate concentration
level 3	HP:0033354	Abnormal urine metabolite level
level 3	HP:0003111	Abnormal blood ion concentration
level 3	HP:0000370	Abnormality of the middle ear
level 3	HP:0000223	Abnormality of taste sensation
level 3	HP:0009124	Abnormal adipose tissue morphology
level 3	HP:0011277	Abnormality of the urinary system physiology
level 3	HP:0031097	Abnormal thyroid-stimulating hormone level
level 3	HP:0011869	Abnormal platelet function
level 3	HP:0004356	Abnormality of lysosomal metabolism
level 3	HP:0033335	Abnormal preimplantation embryonic development
level 3	HP:0008047	Abnormality of the vasculature of the eye
level 3	HP:0004370	Abnormality of temperature regulation
level 3	HP:0011018	Abnormality of the cell cycle
level 3	HP:0032314	Abnormal areolar morphology
level 3	HP:0033358	Abnormal urine osmolality
level 3	HP:0011884	Abnormal umbilical stump bleeding
level 3	HP:0012345	Abnormal glycosylation
level 3	HP:0500018	Abnormal cardiac exercise stress test
level 3	HP:0030860	Abnormal CSF amyloid concentration
level 3	HP:0011772	Abnormal thyroid morphology
level 3	HP:0011122	Abnormality of skin physiology
level 3	HP:0100022	Abnormality of movement
level 3	HP:0025015	Abnormal vascular morphology
level 3	HP:6000489	Abnormal circulating fibroblast growth factor 23 concentration
level 3	HP:0100887	Abnormality of globe size
level 3	HP:0011732	Abnormal adrenal morphology
level 3	HP:0001155	Abnormality of the hand
level 3	HP:0001595	Abnormal hair morphology
level 3	HP:0002270	Abnormality of the autonomic nervous system
level 3	HP:0011843	Abnormal musculoskeletal physiology
level 3	HP:0000929	Abnormal skull morphology
level 3	HP:6000673	Abnormal CSF N-acetylaspartic acid concentration
level 3	HP:0012681	Abnormal pineal morphology
level 3	HP:0500166	Abnormal circulating gastrin concentration
level 3	HP:0012447	Abnormal myelination
level 3	HP:0034977	Abnormal pituitary stalk morphology
level 3	HP:0001446	Abnormality of the musculature of the upper limbs
level 3	HP:0031101	Abnormal circulating antimullerian hormone concentration
level 3	HP:0012099	Abnormality of circulating catecholamine level
level 3	HP:0045081	Abnormality of body mass index
level 3	HP:0025443	Abnormal cardiac atrial physiology
level 3	HP:0031099	Abnormal circulating inhibin level
level 3	HP:0012338	Abnormal energy expenditure
level 3	HP:0001551	Abnormal umbilicus morphology
level 3	HP:0031383	Abnormal lymphocyte surface marker expression
level 3	HP:0000356	Abnormality of the outer ear
level 3	HP:0100767	Abnormal placenta morphology
level 3	HP:0040069	Abnormal lower limb bone morphology
level 3	HP:0004360	Abnormality of acid-base homeostasis
level 3	HP:0030687	Abnormal glucagon level
level 3	HP:0031910	Abnormal cranial nerve physiology
level 3	HP:0040127	Abnormal sweat homeostasis
level 3	HP:0100886	Abnormality of globe location
level 3	HP:0000927	Abnormality of skeletal maturation
level 3	HP:0032488	Abnormal fecal pH
level 3	HP:0010876	Abnormal circulating protein concentration
level 3	HP:0030972	Abnormal systemic blood pressure
level 3	HP:0040207	Abnormal CSF biopterin concentration
level 3	HP:0011730	Abnormal central sensory function
level 3	HP:0012415	Abnormal blood gas level
level 3	HP:0034190	Abnormal fetal cardiovascular physiology
level 3	HP:0001437	Abnormality of the musculature of the lower limbs
level 3	HP:0033170	Abnormal skinfold thickness measurement
level 3	HP:0033799	Abnormal circulating sex hormone concentration
level 3	HP:0031073	Abnormal response to endocrine stimulation test
level 3	HP:0034899	Abnormal amniotic fluid protein concentration
level 3	HP:0031653	Abnormal heart valve physiology
level 3	HP:0034552	Abnormal peroxisomal morphology
level 3	HP:0500238	Abnormal CSF albumin concentration
level 3	HP:0034442	Abnormal circulating erythropoietin concentration
level 3	HP:0025640	Abnormal urinary mineral level
level 3	HP:0012243	Abnormal reproductive system morphology
level 3	HP:0033796	Abnormal leukocyte physiology
level 3	HP:0012769	Abnormal arm span
level 3	HP:0031871	Abnormal Langerhans cell morphology
level 3	HP:0010936	Abnormality of the lower urinary tract
level 3	HP:0012145	Abnormality of multiple cell lineages in the bone marrow
level 3	HP:0004930	Abnormality of the pulmonary vasculature
level 3	HP:0031818	Abnormal waist to hip ratio
level 3	HP:0031850	Abnormal hematocrit
level 3	HP:0002916	Abnormality of chromosome segregation
level 3	HP:0032226	Abnormal sebaceous gland morphology
level 3	HP:0030684	Abnormal adiponectin level
level 3	HP:0500183	Abnormal CSF carboxylic acid concentration
level 3	HP:0030872	Abnormal cardiac ventricular function
level 3	HP:0011442	Abnormal central motor function
level 3	HP:0031416	Abnormal nasal mucus secretion
level 3	HP:0006490	Abnormal lower-limb metaphysis morphology
level 3	HP:0012285	Abnormal hypothalamus physiology
level 3	HP:0009810	Abnormality of upper limb joint
level 3	HP:0004312	Abnormal reticulocyte morphology
level 3	HP:0011805	Abnormal skeletal muscle morphology
level 3	HP:0025065	Abnormal mean corpuscular volume
level 3	HP:0020047	Abnormal myeloid cell morphology
level 3	HP:0031602	Abnormal mucociliary clearance
level 3	HP:0031685	Abnormal stool composition
level 3	HP:0031377	Abnormal cell proliferation
level 3	HP:0012252	Abnormal respiratory system morphology
level 3	HP:0010968	Abnormality of liposaccharide metabolism
level 3	HP:0011766	Abnormal parathyroid morphology
level 3	HP:0011804	Abnormal muscle physiology
level 3	HP:0003256	Abnormality of the coagulation cascade
level 3	HP:0040224	Abnormality of fibrinolysis
level 3	HP:0000496	Abnormality of eye movement
level 3	HP:0004404	Abnormal nipple morphology
level 3	HP:0011875	Abnormal platelet morphology
level 3	HP:0100765	Abnormality of the tonsils
level 3	HP:0034370	Abnormal muscle tissue metabolite concentration
level 3	HP:0012647	Abnormal inflammatory response
level 3	HP:0040084	Abnormal circulating renin
level 3	HP:0007686	Abnormal pupillary function
level 3	HP:0001454	Abnormality of the upper arm
level 3	HP:0011043	Abnormal circulating adrenocorticotropin concentration
level 3	HP:0031476	Abnormal buccal mucosa cell morphology
level 3	HP:0004328	Abnormal anterior eye segment morphology
level 3	HP:0011902	Abnormal hemoglobin
level 3	HP:0032120	Abnormal peripheral nervous system physiology
level 3	HP:0031411	Abnormal chromosome morphology
level 3	HP:0012143	Abnormal megakaryocyte morphology
level 3	HP:0030878	Abnormality on pulmonary function testing
level 3	HP:0025688	Abnormal amyloid beta peptide CSF concentration
level 3	HP:0011111	Abnormal immune serum protein physiology
level 3	HP:0011019	Abnormality of chromosome condensation
level 3	HP:0012688	Abnormality of pineal physiology
level 3	HP:0031389	Abnormal MHC II surface expression
level 3	HP:0005368	Abnormality of humoral immunity
level 3	HP:0001392	Abnormality of the liver
level 3	HP:0033072	Abnormal macroscopic urine appearance
level 3	HP:0034263	Abnormal vaginal bleeding
level 3	HP:0000359	Abnormality of the inner ear
level 3	HP:0034644	Abnormal liver metabolite concentration
level 3	HP:0030085	Abnormal CSF lactate concentration
level 3	HP:0034916	Abnormal anus physiology
level 3	HP:0000971	Abnormal sweat gland morphology
level 3	HP:0004361	Abnormal circulating leptin concentration
level 3	HP:0025155	Abnormality of hepatobiliary system physiology
level 3	HP:0002585	Abnormal peritoneum morphology
level 3	HP:0012535	Abnormal synaptic transmission
level 3	HP:0002973	Abnormal forearm morphology
level 3	HP:0034430	Abnormal joint physiology
level 3	HP:0100508	Abnormality of vitamin metabolism
level 3	HP:0040172	Abnormality of occipitofrontalis muscle
level 3	HP:0031331	Abnormal cardiomyocyte morphology
level 3	HP:0100763	Abnormality of the lymphatic system
level 3	HP:0034698	Abnormal aromatase activity
level 3	HP:0011446	Abnormality of mental function
level 3	HP:0000553	Abnormal uvea morphology
level 3	HP:0012632	Abnormal intraocular pressure
level 3	HP:0010935	Abnormality of the upper urinary tract
level 3	HP:0001627	Abnormal heart morphology
level 3	HP:0030352	Abnormal serum insulin-like growth factor 1 level
level 3	HP:0001965	Abnormal scalp morphology
level 3	HP:0006476	Abnormality of the pancreatic islet cells
level 3	HP:0006707	Abnormality of the hepatic vasculature
level 3	HP:0004408	Abnormality of the sense of smell
level 3	HP:0030163	Abnormal vascular physiology
level 3	HP:0012129	Abnormality of bone marrow stromal cells
level 3	HP:0410014	Abnormal ganglion morphology
level 3	HP:0100766	Abnormal lymphatic vessel morphology
level 3	HP:0040203	Abnormal CSF neopterin concentration
level 3	HP:0032943	Abnormal urine pH
level 3	HP:0034858	Abnormal leukocyte enzyme concentration or activity
level 3	HP:0000504	Abnormality of vision
level 3	HP:0030453	Abnormal visual electrophysiology
level 3	HP:0011893	Abnormal leukocyte count
level 3	HP:0009809	Abnormal upper limb metaphysis morphology
level 3	HP:0012135	Abnormal granulocytopoietic cell morphology
level 3	HP:0011767	Abnormality of the parathyroid physiology
level 3	HP:0040070	Abnormal upper limb bone morphology
level 3	HP:0030829	Abnormal breath sound
level 3	HP:0010987	Abnormal cellular immune system morphology
level 3	HP:0011028	Abnormality of blood circulation
level 3	HP:4000056	Abnormal apoptosis
level 3	HP:0500020	Abnormal cardiac biomarker test
level 3	HP:0500012	Abnormal gonadotropin-releasing hormone concentration
level 3	HP:0025427	Abnormal bronchus physiology
level 3	HP:0001743	Abnormality of the spleen
level 3	HP:0000759	Abnormal peripheral nervous system morphology
level 3	HP:0012130	Abnormal erythroid lineage cell morphology
level 3	HP:0004332	Abnormal lymphocyte morphology
level 3	HP:0003254	Abnormality of DNA repair
level 3	HP:0032485	Abnormal fecal osmolality
level 3	HP:0500017	Abnormal cardiac catheterization
level 3	HP:0500016	Abnormal cardiac MRI
level 3	HP:0032481	Abnormal pituitary glycoprotein hormone alpha subunit level
level 3	HP:6000062	Abnormal nipple discharge
level 3	HP:0001732	Abnormality of the pancreas
level 3	HP:0011620	Abnormality of abdominal situs
level 3	HP:0031285	Abnormal perifollicular morphology
level 3	HP:0000591	Abnormal sclera morphology
level 3	HP:0034200	Abnormal CSF homovanillic acid concentration
level 3	HP:4000183	Abnormal erythrocyte adenosine triphosphate concentration
level 3	HP:0100530	Abnormal circulating calcium-phosphate regulating hormone concentration
level 3	HP:0100685	Abnormal Sharpey fiber morphology
level 3	HP:0025590	Abnormal extraocular muscle physiology
level 3	HP:0030338	Abnormal circulating gonadotropin concentration
level 3	HP:0012503	Abnormal pituitary gland morphology
level 3	HP:0040068	Abnormality of limb bone
level 3	HP:0002733	Abnormal lymph node morphology
level 3	HP:0025546	Abnormal mean corpuscular hemoglobin concentration
level 3	HP:0410009	Abnormality of the somatic nervous system
level 3	HP:0030272	Abnormal erythrocyte enzyme concentration or activity
level 3	HP:0011733	Abnormality of adrenal physiology
level 3	HP:0010948	Abnormal fetal cardiovascular morphology
level 3	HP:0011842	Abnormal skeletal morphology
level 3	HP:0034915	Abnormal anus morphology
level 3	HP:0002813	Abnormal limb bone morphology
level 3	HP:0031340	Abnormal lysosomal morphology