Table 6. Intermediate level MP ontology slim used by DMDD.
A list of the Mammalian Phenotype Ontology IDs and names of terms selected as the intermediate level ontology slim.
| MP:0000001 | mammalian phenotype |
| MP:0002873 | normal phenotype |
| MP:0002169 | no abnormal phenotype detected |
| MP:0005375 | adipose tissue phenotype |
| MP:0000003 | abnormal adipose tissue morphology |
| MP:0005666 | abnormal adipose tissue physiology |
| MP:0004924 | abnormal behavior |
| MP:0020222 | abnormal alertness |
| MP:0011275 | abnormal behavioral response to light |
| MP:0009745 | abnormal behavioral response to xenobiotic |
| MP:0001502 | abnormal circadian rhythm |
| MP:0002069 | abnormal consumption behavior |
| MP:0002572 | abnormal emotion/affect behavior |
| MP:0001440 | abnormal grooming behavior |
| MP:0010698 | abnormal impulsive behavior control |
| MP:0002063 | abnormal learning/memory/conditioning |
| MP:0002066 | abnormal motor capabilities/coordination/
movement |
| MP:0002067 | abnormal sensory capabilities/reflexes/
nociception |
| MP:0011396 | abnormal sleep behavior |
| MP:0002557 | abnormal social/conspecific interaction |
| MP:0001529 | abnormal vocalization |
| MP:0002822 | catalepsy |
| MP:0002899 | fatigue |
| MP:0002064 | seizures |
| MP:0002127 | abnormal cardiovascular system morphology |
| MP:0001614 | abnormal blood vessel morphology |
| MP:0002925 | abnormal cardiovascular development |
| MP:0000266 | abnormal heart morphology |
| MP:0003279 | aneurysm |
| MP:0013332 | peliosis |
| MP:0001544 | abnormal cardiovascular system physiology |
| MP:0002128 | abnormal blood circulation |
| MP:0010695 | abnormal blood pressure regulation |
| MP:0000249 | abnormal blood vessel physiology |
| MP:0004039 | abnormal cardiac cell glucose uptake |
| MP:0002972 | abnormal cardiac muscle contractility |
| MP:0004084 | abnormal cardiac muscle relaxation |
| MP:0011926 | abnormal cardiac valve physiology |
| MP:0011390 | abnormal fetal cardiomyocyte physiology |
| MP:0011925 | abnormal heart echocardiography feature |
| MP:0008775 | abnormal heart ventricle pressure |
| MP:0004085 | abnormal heartbeat |
| MP:0003137 | abnormal impulse conducting system
conduction |
| MP:0020095 | abnormal mean heart rate adaptation |
| MP:0004215 | abnormal myocardial fiber physiology |
| MP:0003547 | abnormal pulmonary pressure |
| MP:0020092 | abnormal susceptibility to aortic cartilaginous
metaplasia |
| MP:0020098 | abnormal susceptibility to diet-induced aortic
fatty streak lesions |
| MP:0000230 | abnormal systemic arterial blood pressure |
| MP:0004484 | altered response of heart to induced stress |
| MP:0000343 | altered response to myocardial infarction |
| MP:0005330 | cardiomyopathy |
| MP:0006138 | congestive heart failure |
| MP:0001853 | heart inflammation |
| MP:0003328 | portal hypertension |
| MP:0005384 | cellular phenotype |
| MP:0000358 | abnormal cell morphology |
| MP:0005621 | abnormal cell physiology |
| MP:0013258 | abnormal extracellular matrix morphology |
| MP:0003121 | genetic imprinting |
| MP:0005382 | craniofacial phenotype |
| MP:0000428 | abnormal craniofacial morphology |
| MP:0002116 | abnormal craniofacial bone morphology |
| MP:0003935 | abnormal craniofacial development |
| MP:0003743 | abnormal facial morphology |
| MP:0011495 | abnormal head shape |
| MP:0002177 | abnormal outer ear morphology |
| MP:0005381 | digestive/alimentary phenotype |
| MP:0000462 | abnormal digestive system morphology |
| MP:0001663 | abnormal digestive system physiology |
| MP:0005380 | embryogenesis phenotype |
| MP:0001672 | abnormal embryogenesis/development |
| MP:0002084 | abnormal developmental patterning |
| MP:0001697 | abnormal embryo size |
| MP:0002085 | abnormal embryonic tissue morphology |
| MP:0008926 | abnormal anterior definitive endoderm
morphology |
| MP:0013230 | abnormal cervical sinus morphology |
| MP:0003085 | abnormal egg cylinder morphology |
| MP:0010115 | abnormal embryonic cloaca morphology |
| MP:3000001 | abnormal gastrula morphology |
| MP:0011411 | abnormal gonadal ridge morphology |
| MP:0011257 | abnormal head fold morphology |
| MP:0011260 | abnormal head mesenchyme morphology |
| MP:0012187 | abnormal intraembryonic coelom morphology |
| MP:0005650 | abnormal limb bud morphology |
| MP:0006301 | abnormal mesenchyme morphology |
| MP:0008487 | abnormal mesonephros morphology |
| MP:0011256 | abnormal neural fold morphology |
| MP:0005657 | abnormal neural plate morphology |
| MP:0002151 | abnormal neural tube morphology/
development |
| MP:0002825 | abnormal notochord morphology |
| MP:0002884 | abnormal pharyngeal arch morphology |
| MP:0013231 | abnormal pharyngeal groove morphology |
| MP:0013232 | abnormal pharyngeal membrane morphology |
| MP:0006031 | abnormal pharyngeal pouch morphology |
| MP:0012496 | abnormal pleuropericardial membrane
morphology |
| MP:0002399 | abnormal pluripotent precursor cell
morphology/development |
| MP:0013217 | abnormal posterior definitive endoderm
morphology |
| MP:0003885 | abnormal rostral-caudal body axis extension |
| MP:0012252 | abnormal septum transversum morphology |
| MP:0001688 | abnormal somite development |
| MP:0002861 | abnormal tail bud morphology |
| MP:0011258 | abnormal tail fold morphology |
| MP:0001674 | abnormal triploblastic development |
| MP:0011835 | abnormal urogenital fold morphology |
| MP:0011853 | abnormal urorectal septum morphology |
| MP:0003988 | disorganized embryonic tissue |
| MP:0013241 | embryo tissue necrosis |
| MP:0008932 | abnormal embryonic tissue physiology |
| MP:0003890 | abnormal embryonic-extraembryonic
boundary morphology |
| MP:0002086 | abnormal extraembryonic tissue morphology |
| MP:0001726 | abnormal allantois morphology |
| MP:0005029 | abnormal amnion morphology |
| MP:0011199 | abnormal amniotic cavity morphology |
| MP:0002836 | abnormal chorion morphology |
| MP:0011202 | abnormal ectoplacental cavity morphology |
| MP:0003396 | abnormal embryonic hematopoiesis |
| MP:0011200 | abnormal extraembryonic coelom morphology |
| MP:0010736 | abnormal extraembryonic ectoderm
morphology |
| MP:0001724 | abnormal extraembryonic endoderm
formation |
| MP:0006323 | abnormal extraembryonic mesoderm
development |
| MP:0011203 | abnormal parietal yolk sac morphology |
| MP:0001711 | abnormal placenta morphology |
| MP:0011197 | abnormal proamniotic cavity morphology |
| MP:0001725 | abnormal umbilical cord morphology |
| MP:0011201 | abnormal visceral yolk sac cavity morphology |
| MP:0001718 | abnormal visceral yolk sac morphology |
| MP:0003229 | abnormal vitelline vasculature morphology |
| MP:0002582 | disorganized extraembryonic tissue |
| MP:0004264 | abnormal extraembryonic tissue physiology |
| MP:0004966 | abnormal inner cell mass proliferation |
| MP:0009781 | abnormal preimplantation embryo
development |
| MP:0011186 | abnormal visceral endoderm morphology |
| MP:0012028 | abnormal visceral endoderm physiology |
| MP:0001730 | embryonic growth arrest |
| MP:0003984 | embryonic growth retardation |
| MP:0005379 | endocrine/exocrine gland phenotype |
| MP:0002163 | abnormal gland morphology |
| MP:0002164 | abnormal gland physiology |
| MP:0005378 | growth/size/body region phenotype |
| MP:0009701 | abnormal birth body size |
| MP:0005451 | abnormal body composition |
| MP:0003385 | abnormal body wall morphology |
| MP:0004134 | abnormal chest morphology |
| MP:0000432 | abnormal head morphology |
| MP:0012719 | abnormal neck morphology |
| MP:0002089 | abnormal postnatal growth/weight/body size |
| MP:0004196 | abnormal prenatal growth/weight/body size |
| MP:0001270 | distended abdomen |
| MP:0004133 | heterotaxia |
| MP:0013328 | visceromegaly |
| MP:0005377 | hearing/vestibular/ear phenotype |
| MP:0002102 | abnormal ear morphology |
| MP:0003938 | abnormal ear development |
| MP:0000026 | abnormal inner ear morphology |
| MP:0000049 | abnormal middle ear morphology |
| MP:0002177 | abnormal outer ear morphology |
| MP:0003878 | abnormal ear physiology |
| MP:0005397 | hematopoietic system phenotype |
| MP:0002396 | abnormal hematopoietic system morphology/
development |
| MP:0002429 | abnormal blood cell morphology/development |
| MP:0002398 | abnormal bone marrow cell morphology/
development |
| MP:0004808 | abnormal hematopoietic stem cell morphology |
| MP:0000689 | abnormal spleen morphology |
| MP:0000703 | abnormal thymus morphology |
| MP:0001545 | abnormal hematopoietic system physiology |
| MP:0005376 | homeostasis/metabolism phenotype |
| MP:0001764 | abnormal homeostasis |
| MP:0005266 | abnormal metabolism |
| MP:0008872 | abnormal physiological response to
xenobiotic |
| MP:0005164 | abnormal response to injury |
| MP:0000604 | amyloidosis |
| MP:0013027 | wounding |
| MP:0005387 | immune system phenotype |
| MP:0000685 | abnormal immune system morphology |
| MP:0000716 | abnormal immune system cell morphology |
| MP:0002722 | abnormal immune system organ morphology |
| MP:0001879 | abnormal lymphatic vessel morphology |
| MP:0001790 | abnormal immune system physiology |
| MP:0010771 | integument phenotype |
| MP:0010678 | abnormal skin adnexa morphology |
| MP:0010680 | abnormal skin adnexa physiology |
| MP:0002060 | abnormal skin morphology |
| MP:0005501 | abnormal skin physiology |
| MP:0001968 | abnormal touch/nociception |
| MP:0005371 | limbs/digits/tail phenotype |
| MP:0002109 | abnormal limb morphology |
| MP:0000572 | abnormal autopod morphology |
| MP:0000550 | abnormal forelimb morphology |
| MP:0000556 | abnormal hindlimb morphology |
| MP:0002115 | abnormal limb bone morphology |
| MP:0006279 | abnormal limb development |
| MP:0012000 | abnormal limb position |
| MP:0000549 | absent limbs |
| MP:0008985 | hemimelia |
| MP:0013069 | limb wound |
| MP:0000548 | long limbs |
| MP:0013133 | pale limbs |
| MP:0000547 | short limbs |
| MP:0020288 | supernumerary limbs |
| MP:0002111 | abnormal tail morphology |
| MP:0005370 | liver/biliary system phenotype |
| MP:0002138 | abnormal hepatobiliary system morphology |
| MP:0005083 | abnormal biliary tract morphology |
| MP:0003943 | abnormal hepatobiliary system development |
| MP:0000598 | abnormal liver morphology |
| MP:0010040 | abnormal oval cell morphology |
| MP:0002139 | abnormal hepatobiliary system physiology |
| MP:0010768 | mortality/aging |
| MP:0005369 | muscle phenotype |
| MP:0002108 | abnormal muscle morphology |
| MP:0002106 | abnormal muscle physiology |
| MP:0003631 | nervous system phenotype |
| MP:0003632 | abnormal nervous system morphology |
| MP:0002751 | abnormal autonomic nervous system
morphology |
| MP:0002152 | abnormal brain morphology |
| MP:0002653 | abnormal ependyma morphology |
| MP:0003634 | abnormal glial cell morphology |
| MP:0002184 | abnormal innervation |
| MP:0005623 | abnormal meninges morphology |
| MP:0003861 | abnormal nervous system
development |
| MP:0000778 | abnormal nervous system tract morphology |
| MP:0002882 | abnormal neuron morphology |
| MP:0002752 | abnormal somatic nervous system morphology |
| MP:0000955 | abnormal spinal cord morphology |
| MP:0008493 | alpha-synuclein inclusion body |
| MP:0003329 | amyloid beta deposits |
| MP:0012260 | encephalomeningocele |
| MP:0002229 | neurodegeneration |
| MP:0003012 | no phenotypic analysis |
| MP:0005395 | other phenotype |
| MP:0001186 | pigmentation phenotype |
| MP:0005367 | renal/urinary system phenotype |
| MP:0000516 | abnormal renal/urinary system morphology |
| MP:0011782 | abnormal internal urethral orifice morphology |
| MP:0002135 | abnormal kidney morphology |
| MP:0005187 | abnormal penis morphology |
| MP:0000534 | abnormal ureter morphology |
| MP:0011487 | abnormal ureteropelvic junction morphology |
| MP:0011488 | abnormal ureterovesical junction morphology |
| MP:0000537 | abnormal urethra morphology |
| MP:0000538 | abnormal urinary bladder morphology |
| MP:0003942 | abnormal urinary system development |
| MP:0003630 | abnormal urothelium morphology |
| MP:0003129 | persistent cloaca |
| MP:0005360 | urolithiasis |
| MP:0005502 | abnormal renal/urinary system physiology |
| MP:0003633 | abnormal nervous system physiology |
| MP:0005389 | reproductive system phenotype |
| MP:0002160 | abnormal reproductive system morphology |
| MP:0001119 | abnormal female reproductive system
morphology |
| MP:0001929 | abnormal gametogenesis |
| MP:0005149 | abnormal gubernaculum morphology |
| MP:0003673 | abnormal inguinal canal morphology |
| MP:0001145 | abnormal male reproductive system
morphology |
| MP:0003315 | abnormal perineum morphology |
| MP:0003936 | abnormal reproductive system development |
| MP:0002210 | abnormal sex determination |
| MP:0000653 | abnormal sex gland morphology |
| MP:0013055 | genital wound |
| MP:0001919 | abnormal reproductive system physiology |
| MP:0005388 | respiratory system phenotype |
| MP:0002132 | abnormal respiratory system morphology |
| MP:0002249 | abnormal larynx morphology |
| MP:0001175 | abnormal lung morphology |
| MP:0002233 | abnormal nose morphology |
| MP:0002240 | abnormal paranasal sinus morphology |
| MP:0002234 | abnormal pharynx morphology |
| MP:0010820 | abnormal pleura morphology |
| MP:0012684 | abnormal pleural cavity morphology |
| MP:0010942 | abnormal respiratory epithelium morphology |
| MP:0003115 | abnormal respiratory system development |
| MP:0002282 | abnormal trachea morphology |
| MP:0002133 | abnormal respiratory system physiology |
| MP:0005390 | skeleton phenotype |
| MP:0005508 | abnormal skeleton morphology |
| MP:0009250 | abnormal appendicular skeleton morphology |
| MP:0002114 | abnormal axial skeleton morphology |
| MP:0003795 | abnormal bone structure |
| MP:0000163 | abnormal cartilage morphology |
| MP:0011849 | abnormal clitoral bone morphology |
| MP:0002932 | abnormal joint morphology |
| MP:0005504 | abnormal ligament morphology |
| MP:0006322 | abnormal perichondrium morphology |
| MP:0002113 | abnormal skeleton development |
| MP:0005503 | abnormal tendon morphology |
| MP:0000566 | synostosis |
| MP:0001533 | abnormal skeleton physiology |
| MP:0005394 | taste/olfaction phenotype |
| MP:0005500 | abnormal gustatory system morphology |
| MP:0001002 | abnormal taste bud morphology |
| MP:0001985 | abnormal gustatory system physiology |
| MP:0005499 | abnormal olfactory system morphology |
| MP:0006292 | abnormal nasal placode morphology |
| MP:0008789 | abnormal olfactory epithelium morphology |
| MP:0012067 | abnormal olfactory gland morphology |
| MP:0001983 | abnormal olfactory system physiology |
| MP:0002006 | tumorigenesis |
| MP:0005391 | vision/eye phenotype |
| MP:0002092 | abnormal eye morphology |
| MP:0005193 | abnormal anterior eye segment morphology |
| MP:0001286 | abnormal eye development |
| MP:0001299 | abnormal eye distance/position |
| MP:0003686 | abnormal eye muscle morphology |
| MP:0001324 | abnormal eye pigmentation |
| MP:0002697 | abnormal eye size |
| MP:0001340 | abnormal eyelid morphology |
| MP:0008968 | abnormal lacrimal apparatus morphology |
| MP:0010030 | abnormal orbit morphology |
| MP:0005195 | abnormal posterior eye segment morphology |
| MP:0002698 | abnormal sclera morphology |
| MP:0005197 | abnormal uvea morphology |
| MP:0001293 | anophthalmia |
| MP:0006209 | calcified intraocular region |
| MP:0013146 | eye lesions |
| MP:0009859 | eye opacity |
| MP:0013170 | eye swellings |
| MP:0006225 | ocular rupture |
| MP:0001788 | periorbital edema |
| MP:0005254 | strabismus |
| MP:0005253 | abnormal eye physiology |