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encyclopedia of Rare Disease Annotation for Precision Medicine

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	trisomy 18

Disease ID	607
Disease	trisomy 18
Definition	a kind of genetic disease
Synonym	chromosome 18 trisomy complete trisomy 18 syndrome complete trisomy 18 syndrome (disorder) e3 trisomy edward syndrome edward's syndrome edward's syndrome nos edward's syndrome nos (disorder) edwards syndrome edwards' syndrome edwards' syndrome (disorder) trisomy 18 nos trisomy 18 syndrome trisomy e syndrome
Orphanet	ORPHANET:3380
OMIM	OMIM:300484
DOID	DOID:1085
UMLS	C0152096
SNOMED-CT	SNOMEDCT_US_2016_09_01:51500006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:19) C0018799 \| heart disease \| 2 C0152021 \| congenital heart disease \| 2 C0206624 \| hepatoblastoma \| 2 C0024299 \| lymphoma \| 2 C0013080 \| trisomy 21 \| 2 C0018818 \| ventricular septal defect \| 1 C0011847 \| diabetes \| 1 C0242647 \| malt lymphoma \| 1 C0152096 \| trisomy 18 \| 1 C0021359 \| infertile \| 1 C0008370 \| cholestasis \| 1 C0011848 \| diabetes insipidus \| 1 C0013069 \| double outlet right ventricle \| 1 C1960469 \| left ventricular noncompaction \| 1 C0010964 \| dandy-walker syndrome \| 1 C0242647 \| mucosa-associated lymphoid tissue \| 1 C0014850 \| esophageal atresia \| 1 C0152096 \| edwards syndrome \| 1 C0014544 \| epilepsy \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:63) 8038 \| ADAM12 \| 3.281 \| DISEASES 174 \| AFP \| 5.773 \| DISEASES 64400 \| AKTIP \| 2.07 \| DISEASES 257 \| ALX3 \| 1.367 \| DISEASES 265 \| AMELX \| 2.603 \| DISEASES 147495 \| APCDD1 \| 3.017 \| DISEASES 921 \| CD5 \| 1.575 \| DISEASES 1193 \| CLIC2 \| 2.682 \| DISEASES 1291 \| COL6A1 \| 1.407 \| DISEASES 78987 \| CRELD1 \| 2.01 \| DISEASES 1443 \| CSH2 \| 1.754 \| DISEASES 1630 \| DCC \| 1.549 \| DISEASES 1837 \| DTNA \| 1.722 \| DISEASES 1847 \| DUSP5 \| 1.033 \| DISEASES 10938 \| EHD1 \| 2.173 \| DISEASES 23136 \| EPB41L3 \| 1.544 \| DISEASES 2187 \| FANCB \| 2.673 \| DISEASES 9573 \| GDF3 \| 1.848 \| DISEASES 57000 \| GSN-AS1 \| 2.125 \| DISEASES 2993 \| GYPA \| 1.756 \| DISEASES 5654 \| HTRA1 \| 1.088 \| DISEASES 3481 \| IGF2 \| 1.509 \| DISEASES 3486 \| IGFBP3 \| 1.266 \| DISEASES 100423062 \| IGLL5 \| 1.262 \| DISEASES 1316 \| KLF6 \| 1.175 \| DISEASES 9735 \| KNTC1 \| 1.085 \| DISEASES 284217 \| LAMA1 \| 2.06 \| DISEASES 51520 \| LARS \| 1.622 \| DISEASES 4214 \| MAP3K1 \| 1.267 \| DISEASES 27030 \| MLH3 \| 1.689 \| DISEASES 4609 \| MYC \| 1.415 \| DISEASES 4720 \| NDUFS2 \| 1.338 \| DISEASES 8481 \| OFD1 \| 1.782 \| DISEASES 4983 \| OPHN1 \| 2.027 \| DISEASES 126014 \| OSCAR \| 2.414 \| DISEASES 5069 \| PAPPA \| 6.921 \| DISEASES 5228 \| PGF \| 2.298 \| DISEASES 11040 \| PIM2 \| 1.413 \| DISEASES 8228 \| PNPLA4 \| 3.086 \| DISEASES 100169750 \| PRINS \| 3.662 \| DISEASES 122706 \| PSMB11 \| 2.899 \| DISEASES 5696 \| PSMB8 \| 1.259 \| DISEASES 374308 \| PTCHD3 \| 1.566 \| DISEASES 5813 \| PURA \| 1.877 \| DISEASES 9939 \| RBM8A \| 1.888 \| DISEASES 1827 \| RCAN1 \| 1.241 \| DISEASES 5268 \| SERPINB5 \| 2.084 \| DISEASES 6622 \| SNCA \| 1.416 \| DISEASES 6664 \| SOX11 \| 1.373 \| DISEASES 6736 \| SRY \| 1.076 \| DISEASES 8831 \| SYNGAP1 \| 1.655 \| DISEASES 6932 \| TCF7 \| 1.795 \| DISEASES 10732 \| TCFL5 \| 1.347 \| DISEASES 7012 \| TERC \| 1.212 \| DISEASES 7037 \| TFRC \| 1.784 \| DISEASES 113452 \| TMEM54 \| 1.486 \| DISEASES 55503 \| TRPV6 \| 1.378 \| DISEASES 7258 \| TSPY1 \| 1.611 \| DISEASES 100289087 \| TSPY10 \| 1.647 \| DISEASES 9218 \| VAPA \| 1.309 \| DISEASES 7546 \| ZIC2 \| 1.668 \| DISEASES 10771 \| ZMYND11 \| 2.485 \| DISEASES 201516 \| ZSCAN4 \| 3.081 \| DISEASES
Locus	(Waiting for update.)

Disease ID	607
Disease	trisomy 18
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:67) HP:0000028 \| Cryptorchidism HP:0000160 \| Narrow mouth HP:0001263 \| Global developmental delay HP:0009914 \| Cyclopia HP:0000568 \| Microphthalmia HP:0002023 \| Anal atresia HP:0000518 \| Cataract HP:0000581 \| Blepharophimosis HP:0003196 \| Short nose HP:0001629 \| Ventricular septal defect HP:0004322 \| Short stature HP:0100543 \| Cognitive impairment HP:0000453 \| Choanal atresia HP:0001562 \| Oligohydramnios HP:0000776 \| Congenital diaphragmatic hernia HP:0001360 \| Holoprosencephaly HP:0002032 \| Esophageal atresia HP:0007477 \| Abnormal dermatoglyphics HP:0010935 \| Abnormality of the upper urinary tract HP:0000337 \| Broad forehead HP:0001631 \| Atrial septal defect HP:0007598 \| Bilateral single transverse palmar creases HP:0007370 \| Aplasia/Hypoplasia of the corpus callosum HP:0000126 \| Hydronephrosis HP:0002564 \| Malformation of the heart and great vessels HP:0000465 \| Webbed neck HP:0000316 \| Hypertelorism HP:0001162 \| Postaxial hand polydactyly HP:0001511 \| Intrauterine growth retardation HP:0000772 \| Abnormality of the ribs HP:0002308 \| Arnold-Chiari malformation HP:0000008 \| Abnormality of female internal genitalia HP:0004097 \| Deviation of finger HP:0001276 \| Hypertonia HP:0002414 \| Spina bifida HP:0000612 \| Iris coloboma HP:0001510 \| Growth delay HP:0008388 \| Abnormality of the toenails HP:0100335 \| Non-midline cleft lip HP:0100810 \| Pointed helix HP:0000286 \| Epicanthus HP:0000175 \| Cleft palate HP:0000275 \| Narrow face HP:0000252 \| Microcephaly HP:0002814 \| Abnormality of the lower limb HP:0001539 \| Omphalocele HP:0003272 \| Abnormality of the hip bone HP:0000268 \| Dolichocephaly HP:0007703 \| Abnormality of retinal pigmentation HP:0004326 \| Cachexia HP:0000269 \| Prominent occiput HP:0000348 \| High forehead HP:0002750 \| Delayed skeletal maturation HP:0000308 \| Microretrognathia HP:0003275 \| Narrow pelvis bone HP:0000235 \| Abnormality of the fontanelles or cranial sutures HP:0000325 \| Triangular face HP:0000368 \| Low-set, posteriorly rotated ears HP:0009891 \| Underdeveloped supraorbital ridges HP:0100490 \| Camptodactyly of finger HP:0001252 \| Muscular hypotonia HP:0002817 \| Abnormality of the upper limb HP:0000501 \| Glaucoma HP:0100790 \| Hernia HP:0000189 \| Narrow palate HP:0002323 \| Anencephaly HP:0000482 \| Microcornea
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:23) HP:0002884 \| Hepatoblastoma \| 2 HP:0002665 \| Lymphoma \| 2 HP:0001360 \| Single brain ventricle \| 1 HP:0001396 \| Cholestasis \| 1 HP:0001250 \| Seizures \| 1 HP:0002032 \| Esophageal atresia \| 1 HP:0001159 \| Webbed fingers or toes \| 1 HP:0000707 \| Neurological abnormality \| 1 HP:0001622 \| Premature delivery \| 1 HP:0030682 \| Left ventricular noncompaction \| 1 HP:0030084 \| Clinodactyly \| 1 HP:0002804 \| Arthrogryposis multiplex congenita \| 1 HP:0002198 \| Enlarged fourth ventricle \| 1 HP:0100257 \| Cleft hand \| 1 HP:0008643 \| Nephroblastomatosis \| 1 HP:0000835 \| Hypoplastic adrenal glands \| 1 HP:0001627 \| Congenital heart defects \| 1 HP:0001719 \| Double-outlet right ventricle \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0002323 \| Anencephaly \| 1 HP:0001629 \| Ventricular septal defects \| 1 HP:0009914 \| Cyclopia \| 1 HP:0000873 \| Diabetes insipidus \| 1

Disease ID	607
Disease	trisomy 18
Manually Symptom	UMLS \| Name(Total Manually Symptoms:12) C1456173 \| severe gingival recession C1305909 \| truncus arteriosus C0795690 \| omphalocele C0741916 \| cardiac defects C0700208 \| scoliosis C0497552 \| nervous system abnormalities C0376293 \| stigmata C0206624 \| hepatoblastomas C0206624 \| hepatoblastoma C0036857 \| severe mental retardation C0018799 \| heart diseases C0005411 \| biliary atresia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0206624 \| hepatoblastoma \| 2

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:32)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000776	Congenital diaphragmatic hernia	MP:0010146	umbilical hernia	an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close
HP:0003272	Abnormality of the hip bone	MP:0009536	abnormal interstitial cell of Cajal morphology	any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which
HP:0003196	Short nose	MP:0002233	abnormal nose morphology	any structural anomaly of the organ that is specialized for smell and is part of the respiratory system
HP:0000772	Abnormality of the ribs	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0000160	Narrow mouth	MP:0000452	abnormal mouth morphology	any structural anomaly of the oral cavity
HP:0002032	Esophageal atresia	MP:0009510	cecal atresia	congenital blockage or absence of the lumen of the cecum
HP:0004097	Deviation of finger	MP:0008261	arrest of male meiosis	cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell
HP:0000453	Choanal atresia	MP:0009510	cecal atresia	congenital blockage or absence of the lumen of the cecum
HP:0000325	Triangular face	MP:0012546	triangular face	a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia
HP:0001263	Global developmental delay	MP:0002084	abnormal developmental patterning	abnormal systematic arrangement of the developing body along an axis
HP:0000235	Abnormality of the fontanelles or cranial sutures	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0001252	Muscular hypotonia	MP:0004144	hypotonia	decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness
HP:0000189	Narrow palate	MP:0009653	abnormal palate development	abnormal formation of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate)
HP:0000008	Abnormality of female internal genitalia	MP:0009403	increased variability of skeletal muscle fiber size	greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls
HP:0007703	Abnormality of retinal pigmentation	MP:0011665	d-loop transposition of the great arteries	complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0000175	Cleft palate	MP:0013550	abnormal secondary palate morphology
HP:0002023	Anal atresia	MP:0006130	pulmonary valve atresia	congenital closure of the pulmonary valve
HP:0008388	Abnormality of the toenails	MP:0012069	abnormal horizontal basal cell of olfactory epithelium morphology	any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas
HP:0001631	Atria septal defect	MP:0011667	double outlet right ventricle with atrioventricular septal defect	a form of DORV in which there is also a complete atrioventricular canal
HP:0000612	Iris coloboma	MP:0005262	coloboma	anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation
HP:0010935	Abnormality of the upper urinary tract	MP:0009886	failure of palatal shelf elevation	the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue
HP:0100335	Non-midline cleft lip	MP:0008797	facial cleft	a cleft resulting from incomplete merging or fusion of any of the embryonic facial processes that normally unite to form the face
HP:0002750	Delayed skeletal maturation	MP:0003379	absent sexual maturation	failure to initiate pubertal changes that result in achievement of full sexual capacity
HP:0001162	Postaxial hand polydactyly	MP:0009743	preaxial polydactyly	duplication of all or part of the first ray on one or more of the autopods
HP:0001511	Intrauterine growth retardation	MP:0011109	lethality throughout fetal growth and development, incomplete penetrance	the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)
HP:0100490	Camptodactyly of finger	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0002817	Abnormality of the upper limb	MP:0004686	decreased length of long bones	reduced end-to-end length of the several elongated bones of the extremities
HP:0001629	Ventricular septal defect	MP:0011667	double outlet right ventricle with atrioventricular septal defect	a form of DORV in which there is also a complete atrioventricular canal
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	MP:0013283	failure of ventral body wall closure	failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h
HP:0002814	Abnormality of the lower limb	MP:0004686	decreased length of long bones	reduced end-to-end length of the several elongated bones of the extremities
HP:0002414	Spina bifida	MP:0003054	spina bifida	common congenital midline defect of fusion of the vertebral arch
HP:0003275	Narrow pelvis bone	MP:0008272	abnormal endochondral bone ossification	anomaly in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone

Mapped by homologous gene(Total Items:65)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001252	Muscular hypotonia	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0007598	Bilateral single transverse palmar creases	MP:0012279	wide sternum	an increase in the width of the long flat bone of the chest that articulates with the clavicle and first seven rib pairs
HP:0000325	Triangular face	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000268	Dolichocephaly	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000482	Microcornea	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002323	Anencephaly	MP:0013349	small Rathke's pouch	reduced size of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland
HP:0000275	Narrow face	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001631	Atria septal defect	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000453	Choanal atresia	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0004097	Deviation of finger	MP:0013785	abnormal mammary gland bud morphology	any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva
HP:0003196	Short nose	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0004322	Short stature	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001629	Ventricular septal defect	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001162	Postaxial hand polydactyly	MP:0014117	increased pancreatic beta cell apoptosis	increase in the number of pancreatic beta cells undergoing programmed cell death
HP:0000008	Abnormality of female internal genitalia	MP:0013785	abnormal mammary gland bud morphology	any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva
HP:0004326	Cachexia	MP:0013659	abnormal erythroid lineage cell morphology	any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0000501	Glaucoma	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0007477	Abnormal dermatoglyphics	MP:0013696	increased granulocyte monocyte progenitor cell number	increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1
HP:0100543	Cognitive impairment	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000316	Hypertelorism	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000776	Congenital diaphragmatic hernia	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000772	Abnormality of the ribs	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002308	Arnold-Chiari malformation	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0000269	Prominent occiput	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000581	Blepharophimosis	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000126	Hydronephrosis	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000518	Cataract	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001510	Growth delay	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland
HP:0002023	Anal atresia	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0000028	Cryptorchidism	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001511	Intrauterine growth retardation	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001539	Omphalocele	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland
HP:0010935	Abnormality of the upper urinary tract	MP:0013389	Meibomian gland hypoplasia	underdevelopment or reduced size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate, usually due to a reduced number of cells
HP:0000337	Broad forehead	MP:0020157	abnormal behavioral response to alcohol	any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0000189	Narrow palate	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0002414	Spina bifida	MP:0013901	absent female preputial gland	absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti
HP:0002817	Abnormality of the upper limb	MP:0013205	abnormal nonmotile primary cilium morphology	any structural anomaly of a primary cilium which contains a variable array of axonemal microtubules but does not contain molecular motors; nonmotile primary cilia are found on many different cell types and function as sensory organelles that concentrate a
HP:0008388	Abnormality of the toenails	MP:0014175	abnormal ciliary epithelium morphology	any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of l
HP:0100490	Camptodactyly of finger	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000612	Iris coloboma	MP:0013791	absent external nares	absence or failure to form both of the anterior openings to the nasal cavity
HP:0001263	Global developmental delay	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002032	Esophageal atresia	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000568	Microphthalmia	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000348	High forehead	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000160	Narrow mouth	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0001276	Hypertonia	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000308	Microretrognathia	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000175	Cleft palate	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0003275	Narrow pelvis bone	MP:0014152	absent exorbital lacrimal gland	absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland
HP:0001562	Oligohydramnios	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0100790	Hernia	MP:0014185	cerebellum atrophy	acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0001360	Holoprosencephaly	MP:0014051	abnormal maxillary-premaxillary suture morphology	any structural anomaly of the line of union of the two portions of the maxilla (pre- and postmaxilla)
HP:0000286	Epicanthus	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0007703	Abnormality of retinal pigmentation	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0009891	Underdeveloped supraorbital ridges	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000368	Low-set, posteriorly rotated ears	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0009914	Cyclopia	MP:0013906	absent embryonic telencephalon	absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops
HP:0002750	Delayed skeletal maturation	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland
HP:0000465	Webbed neck	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0000235	Abnormality of the fontanelles or cranial sutures	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland
HP:0002814	Abnormality of the lower limb	MP:0013616	decreased volumetric bone mineral density	reduction in the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usual
HP:0000252	Microcephaly	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0003272	Abnormality of the hip bone	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0100335	Non-midline cleft lip	MP:0014051	abnormal maxillary-premaxillary suture morphology	any structural anomaly of the line of union of the two portions of the maxilla (pre- and postmaxilla)

Disease ID	607
Disease	trisomy 18
Case	(Waiting for update.)