eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| holoprosencephaly | ||||
| Disease ID | 232 |
|---|---|
| Disease | holoprosencephaly |
| Definition | Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES. |
| Synonym | familial alobar holoprosencephaly familial alobar holoprosencephaly (disorder) familial alobar holoprosencephaly -retired- holoprosencephalies holoprosencephaly (hpe) holoprosencephaly [disease/finding] holoprosencephaly sequence holoprosencephaly sequence (disorder) hpe - holoprosencephaly hpe, familial hpec single brain ventricle |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0079541 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0008924 | cleft lip | 3 C0152096 | trisomy 18 | 1 C0011849 | diabetes mellitus | 1 C0085207 | maternal diabetes | 1 C0011847 | diabetes | 1 C0039144 | syringomyelia | 1 C0078981 | arachnoid cyst | 1 C0751362 | narcolepsy with cataplexy | 1 C0027404 | narcolepsy | 1 C0025958 | microcephaly | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:14) 2260 | FGFR1 | UniProtKB-KW 5727 | PTCH1 | CLINVAR;UniProtKB-KW;UNIPROT 6997 | TDGF1 | CTD_human;UNIPROT 4838 | NODAL | CTD_human 50937 | CDON | UniProtKB-KW 6469 | SHH | CTD_human;UniProtKB-KW;UNIPROT 7050 | TGIF1 | CTD_human;UniProtKB-KW;UNIPROT 2736 | GLI2 | UniProtKB-KW;UNIPROT 6496 | SIX3 | CTD_human;UniProtKB-KW;UNIPROT 3244 | HPE1 | CTD_human 7546 | ZIC2 | UniProtKB-KW;UNIPROT 8928 | FOXH1 | UNIPROT 2619 | GAS1 | CTD_human 57045 | TWSG1 | CTD_human |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:11) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:89) 91 | ACVR1B | 1.305 | DISEASES 104 | ADARB1 | 1.863 | DISEASES 250 | ALPP | 1.134 | DISEASES 257 | ALX3 | 3.781 | DISEASES 551 | AVP | 1.436 | DISEASES 653 | BMP5 | 1.495 | DISEASES 755 | C21orf2 | 1.542 | DISEASES 8029 | CUBN | 1.269 | DISEASES 192668 | CYS1 | 1.284 | DISEASES 1641 | DCX | 1.162 | DISEASES 1717 | DHCR7 | 3.478 | DISEASES 22943 | DKK1 | 1.533 | DISEASES 79659 | DYNC2H1 | 1.937 | DISEASES 2018 | EMX2 | 1.588 | DISEASES 2045 | EPHA7 | 1.44 | DISEASES 2047 | EPHB1 | 1.547 | DISEASES 80712 | ESX1 | 4.289 | DISEASES 115704 | EVI5L | 3.597 | DISEASES 2070 | EYA4 | 1.518 | DISEASES 2253 | FGF8 | 4.609 | DISEASES 2260 | FGFR1 | 2.138 | DISEASES 2316 | FLNA | 1.337 | DISEASES 22862 | FNDC3A | 1.399 | DISEASES 2290 | FOXG1 | 3.576 | DISEASES 8928 | FOXH1 | 3.508 | DISEASES 9573 | GDF3 | 2.604 | DISEASES 2736 | GLI2 | 5.404 | DISEASES 2737 | GLI3 | 3.581 | DISEASES 2262 | GPC5 | 1.455 | DISEASES 55733 | HHAT | 1.136 | DISEASES 3142 | HLX | 1.812 | DISEASES 51440 | HPCAL4 | 3.247 | DISEASES 219844 | HYLS1 | 3.003 | DISEASES 10300 | KATNB1 | 2.627 | DISEASES 11127 | KIF3A | 1.413 | DISEASES 374654 | KIF7 | 1.74 | DISEASES 9355 | LHX2 | 1.727 | DISEASES 8022 | LHX3 | 4.216 | DISEASES 4047 | LSS | 2.168 | DISEASES 4487 | MSX1 | 1.706 | DISEASES 345778 | MTX3 | 1.959 | DISEASES 54820 | NDE1 | 1.421 | DISEASES 4750 | NEK1 | 2.1 | DISEASES 7080 | NKX2-1 | 2.02 | DISEASES 4821 | NKX2-2 | 2 | DISEASES 579 | NKX3-2 | 2.66 | DISEASES 9241 | NOG | 2.806 | DISEASES 51070 | NOSIP | 3.054 | DISEASES 64067 | NPAS3 | 2.804 | DISEASES 8013 | NR4A3 | 1.116 | DISEASES 8481 | OFD1 | 1.368 | DISEASES 5015 | OTX2 | 3.336 | DISEASES 5048 | PAFAH1B1 | 2.756 | DISEASES 5080 | PAX6 | 1.42 | DISEASES 5083 | PAX9 | 2.409 | DISEASES 80055 | PGAP1 | 2.633 | DISEASES 23556 | PIGN | 1.23 | DISEASES 5332 | PLCB4 | 1.976 | DISEASES 5449 | POU1F1 | 3.723 | DISEASES 5454 | POU3F2 | 1.195 | DISEASES 5547 | PRCP | 3.199 | DISEASES 3275 | PRMT2 | 2.215 | DISEASES 5727 | PTCH1 | 4.283 | DISEASES 8643 | PTCH2 | 1.198 | DISEASES 51715 | RAB23 | 2.514 | DISEASES 64901 | RANBP17 | 2.474 | DISEASES 5649 | RELN | 1.38 | DISEASES 10284 | SAP18 | 2.709 | DISEASES 4990 | SIX6 | 2.141 | DISEASES 292 | SLC25A5 | 1.417 | DISEASES 58533 | SNX6 | 3.633 | DISEASES 6657 | SOX2 | 2.627 | DISEASES 6658 | SOX3 | 4.052 | DISEASES 10253 | SPRY2 | 1.243 | DISEASES 6491 | STIL | 2.969 | DISEASES 51684 | SUFU | 1.823 | DISEASES 6612 | SUMO3 | 1.158 | DISEASES 9095 | TBX19 | 3.089 | DISEASES 200424 | TET3 | 1.535 | DISEASES 7050 | TGIF1 | 5.558 | DISEASES 60436 | TGIF2 | 5.436 | DISEASES 100038246 | TLX1NB | 1.519 | DISEASES 7289 | TULP3 | 2.333 | DISEASES 92181 | UBTD2 | 3.162 | DISEASES 57216 | VANGL2 | 2.126 | DISEASES 375567 | VWC2 | 3.201 | DISEASES 7479 | WNT8B | 2.109 | DISEASES 7546 | ZIC2 | 7.339 | DISEASES 84107 | ZIC4 | 1.899 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 232 |
|---|---|
| Disease | holoprosencephaly |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:99) HP:0000028 | Cryptorchidism HP:0009914 | Cyclopia HP:0008501 | Medial cleft lip and palate HP:0000873 | Diabetes insipidus HP:0000437 | Depressed nasal tip HP:0002072 | Chorea HP:0008736 | Hypoplasia of penis HP:0001257 | Spasticity HP:0007360 | Aplasia/Hypoplasia of the cerebellum HP:0000079 | Abnormality of the urinary system HP:0001943 | Hypoglycemia HP:0000871 | Panhypopituitarism HP:0001636 | Tetralogy of Fallot HP:0008872 | Feeding difficulties in infancy HP:0003312 | Abnormal form of the vertebral bodies HP:0002093 | Respiratory insufficiency HP:0000256 | Macrocephaly HP:0011675 | Arrhythmia HP:0000252 | Microcephaly HP:0000835 | Hypoplastic adrenal glands HP:0000528 | Anophthalmia HP:0001883 | Talipes HP:0008501 | Median cleft lip and palate HP:0000819 | Diabetes mellitus HP:0000289 | Broad philtrum HP:0001252 | Muscular hypotonia HP:0009804 | Reduced number of teeth HP:0004409 | Hyposmia HP:0100543 | Cognitive impairment HP:0000929 | Abnormality of the skull HP:0001360 | Holoprosencephaly HP:0100336 | Bilateral cleft lip HP:0000508 | Ptosis HP:0000582 | Upslanted palpebral fissure HP:0007370 | Aplasia/Hypoplasia of the corpus callosum HP:0002007 | Frontal bossing HP:0009794 | Branchial anomaly HP:0000612 | Iris coloboma HP:0000286 | Epicanthus HP:0009738 | Abnormality of the antihelix HP:0010301 | Spinal dysraphism HP:0000648 | Optic atrophy HP:0001324 | Muscle weakness HP:0000488 | Retinopathy HP:0002084 | Encephalocele HP:0000238 | Hydrocephalus HP:0000601 | Closely spaced eyes HP:0000776 | Congenital diaphragmatic hernia HP:0001263 | Global developmental delay HP:0011100 | Intestinal atresia HP:0002553 | Highly arched eyebrow HP:0000581 | Blepharophimosis HP:0001629 | Ventricular septal defect HP:0000453 | Choanal atresia HP:0000601 | Hypotelorism HP:0006315 | Single median maxillary incisor HP:0001156 | Brachydactyly syndrome HP:0009924 | Aplasia/Hypoplasia involving the nose HP:0002902 | Hyponatremia HP:0005692 | Joint hyperflexibility HP:0000316 | Hypertelorism HP:0002020 | Gastroesophageal reflux HP:0001250 | Seizures HP:0000457 | Depressed nasal ridge HP:0005469 | Flat occiput HP:0002650 | Scoliosis HP:0000458 | Anosmia HP:0001641 | Abnormality of the pulmonary valve HP:0001679 | Abnormality of the aorta HP:0001305 | Dandy-Walker malformation HP:0000161 | Median cleft lip HP:0000463 | Anteverted nares HP:0012639 | Abnormality of nervous system morphology HP:0000054 | Short penis HP:0002002 | Deep philtrum HP:0000470 | Short neck HP:0000568 | Microphthalmia HP:0002019 | Constipation HP:0000093 | Proteinuria HP:0002269 | Abnormality of neuronal migration HP:0000490 | Deeply set eye HP:0010302 | Spinal cord tumor HP:0001531 | Failure to thrive in infancy HP:0001332 | Dystonia HP:0100596 | Absent nares HP:0000574 | Thick eyebrow HP:0002006 | Tessier facial cleft HP:0006988 | Alobar holoprosencephaly HP:0001539 | Omphalocele HP:0000664 | Synophrys HP:0001999 | Abnormal facial shape HP:0000830 | Anterior hypopituitarism HP:0000567 | Chorioretinal coloboma HP:0006703 | Aplasia/Hypoplasia of the lungs HP:0000400 | Macrotia HP:0001161 | Hand polydactyly HP:0008572 | External ear malformation HP:0001743 | Abnormality of the spleen HP:0010669 | Cheekbone underdevelopment |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:18) HP:0030716 | Acrania | 2 HP:0001274 | Absent corpus callosum | 1 HP:0100702 | Arachnoid cyst | 1 HP:0001320 | Hypoplasia of the cerebellar vermis | 1 HP:0002524 | Cataplexy | 1 HP:0030050 | Narcolepsy | 1 HP:0009800 | gestational diabetes | 1 HP:0007074 | Large corpus callosum | 1 HP:0000252 | Small head circumference | 1 HP:0006988 | Alobar holoprosencephaly | 1 HP:0002084 | Bifid skull | 1 HP:0010442 | Polydactyly | 1 HP:0003396 | Syringomyelia | 1 HP:0000819 | Diabetes mellitus | 1 HP:0000161 | Central cleft upper lip | 1 HP:0006870 | Lobar holoprosencephaly | 1 HP:0009914 | Cyclopia | 1 HP:0100258 | Polydactyly, preaxial | 1 |
| Disease ID | 232 |
|---|---|
| Disease | holoprosencephaly |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:5) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| GLI2 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
| SHH | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
| SIX3 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
| TGIF1 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
| ZIC2 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121909067 | 17158784 | 4087 | SMAD2 | umls:C0079541 | BeFree | Here we show that a holoprosencephaly mutation (P63R) interferes with the ability of TGIF to act as a corepressor for c-Jun and Smad2, suggesting that this holoprosencephaly mutation may lead to a general defect in the TGIF protein. | 0.000271442 | 2007 | TGIF1 | 18 | 3456525 | C | G |
| rs138911275 | NA | 5727 | PTCH1 | umls:C0079541 | CLINVAR | NA | 0.121085767 | NA | PTCH1 | 9 | 95458026 | G | A |
| rs199580307 | 16475235 | 7050 | TGIF1 | umls:C0079541 | BeFree | A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease. | 0.136054797 | 2006 | TGIF1 | 18 | 3457498 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:40) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0000457 | Depressed nasal ridge | MP:0004872 | absent nasal septum | absence of the structure that separates the two nasal cavities |
| HP:0000437 | Depressed nasal tip | MP:0004471 | short nasal bone | reduced length of either of two rectangular bone plates forming the bridge of the nose |
| 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:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0009738 | Abnormality of the antihelix | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0000453 | Choanal atresia | MP:0009510 | cecal atresia | congenital blockage or absence of the lumen of the cecum |
| HP:0002006 | Facial cleft | MP:0009890 | cleft secondary palate | congenital fissure of the tissues normally uniting to form the secondary palate |
| HP:0000835 | Adrenal hypoplasia | MP:0013193 | sebaceous gland hypoplasia | underdevelopment and decreased size of the sebum secreting glands of the hair shaft, usually due to a decrease in the number of cells |
| HP:0001999 | Abnormal facial shape | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0009804 | Reduced number of teeth | 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:0001641 | Abnormality of the pulmonary valve | MP:0010465 | aberrant origin of the right subclavian artery | the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta |
| HP:0001636 | Tetralogy of Fallot | 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:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0006315 | Single median maxillary incisor | MP:0009897 | decreased maxillary shelf size | reduced size of the bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| 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:0003312 | Abnormal form of the vertebral bodies | 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:0000079 | Abnormality of the urinary system | 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:0008501 | Median cleft lip and palate | MP:0009890 | cleft secondary palate | congenital fissure of the tissues normally uniting to form the secondary palate |
| HP:0000161 | Median cleft lip | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0009924 | Aplasia/Hypoplasia involving the 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:0000830 | Anterior hypopituitarism | MP:0003348 | hypopituitarism | reduction or cessation of secretion of one or more hormones from the anterior pituitary gland; this may result from ablation, tumors, infarction, or other trauma |
| HP:0001743 | Abnormality of the spleen | MP:0004485 | increased response of heart to induced stress | increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding |
| HP:0001531 | Failure to thrive in infancy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0008572 | External ear malformation | MP:0006286 | inner ear hypoplasia | underdevelopment or reduced size of inner ear structures, usually due to decreased cell number |
| HP:0000582 | Upslanted palpebral fissure | MP:0012535 | abnormal optic fissure closure | failure to initiate and/or complete closure of the transient gap in the ventral margin of the developing optic cup; fusion of the optic fissure begins with apposition of the inferior lips of the ventral-most optic cup and continues anteriorly toward its r |
| HP:0001161 | Hand polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| 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:0001679 | Abnormality of the aorta | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | MP:0010728 | fusion of atlas and occipital bones | union of elements of the atlas and the bone at the lower, posterior part of the skull into one structure |
| HP:0000490 | Deeply set eye | MP:0009829 | enlarged eye anterior chamber | increased size of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens |
| HP:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| HP:0010669 | Hypoplasia of the zygomatic bone | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0002269 | Abnormality of neuronal migration | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| 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: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:0008736 | Hypoplasia of penis | 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:0010302 | Spinal cord tumor | MP:0009277 | increased brain tumor incidence | greater than the expected number of abnormal rapidly proliferating cells in the brain, usually in the form of a distinct mass, occurring in a specific population in a given time period |
Mapped by homologous gene(Total Items:94) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001883 | Talipes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001161 | Hand polydactyly | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| 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:0000567 | Chorioretinal coloboma | MP:0013767 | decreased palatal rugae number | reduced number of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species |
| HP:0009738 | Abnormality of the antihelix | 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:0001539 | Omphalocele | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0009804 | Reduced number of teeth | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000664 | Synophrys | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000457 | Depressed nasal ridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000574 | Thick eyebrow | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000835 | Adrenal hypoplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001636 | Tetralogy of Fallot | MP:0014117 | increased pancreatic beta cell apoptosis | increase in the number of pancreatic beta cells undergoing programmed cell death |
| HP:0010301 | Spinal dysraphism | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0002020 | Gastroesophageal reflux | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0008736 | Hypoplasia of penis | 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:0000400 | Macrotia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0005692 | Joint hyperflexibility | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0004409 | Hyposmia | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0006315 | Single median maxillary incisor | 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:0000873 | Diabetes insipidus | 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:0000161 | Median cleft lip | MP:0014117 | increased pancreatic beta cell apoptosis | increase in the number of pancreatic beta cells undergoing programmed cell death |
| HP:0002553 | Highly arched eyebrow | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000093 | Proteinuria | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0000929 | Abnormality of the skull | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0002002 | Deep philtrum | MP:0020040 | decreased bone ossification | decrease 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:0006703 | Aplasia/Hypoplasia of the lungs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001305 | Dandy-Walker malformation | 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:0010302 | Spinal cord tumor | MP:0013611 | abnormal bile duct epithelium morphology | any structural anomaly of the epithelium lining the intrahepatic and extrahepatic bile ducts |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | 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:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0000470 | Short neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000458 | Anosmia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000488 | Retinopathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000079 | Abnormality of the urinary system | 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:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0010669 | Hypoplasia of the zygomatic bone | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002902 | Hyponatremia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002007 | Frontal bossing | 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:0000871 | Panhypopituitarism | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000528 | Anophthalmia | 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:0001250 | Seizures | 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:0100596 | Absent nares | 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:0000054 | Micropenis | 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:0001679 | Abnormality of the aorta | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| 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:0001257 | Spasticity | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000490 | Deeply set eye | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| 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:0001156 | Brachydactyly syndrome | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001999 | Abnormal facial shape | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000582 | Upslanted palpebral fissure | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0009924 | Aplasia/Hypoplasia involving the nose | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0011100 | Intestinal atresia | MP:0011413 | colorless urine | absence of the usual straw-coloration of the urine |
| HP:0009794 | Branchial anomaly | MP:0013550 | abnormal secondary palate morphology | |
| HP:0000289 | Broad philtrum | MP:0011962 | increased cornea thickness | increased width of the cornea in the center plane |
| HP:0009914 | Cyclopia | MP:0013906 | absent embryonic telencephalon | absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops |
| HP:0002072 | Chorea | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002019 | Constipation | 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:0000601 | Hypotelorism | 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:0001641 | Abnormality of the pulmonary valve | 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:0000830 | Anterior hypopituitarism | 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:0000648 | Optic atrophy | 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: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:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000463 | Anteverted nares | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002006 | Facial cleft | 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:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| 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: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:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000581 | Blepharophimosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002269 | Abnormality of neuronal migration | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0008572 | External ear malformation | 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:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0002084 | Encephalocele | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008501 | Median cleft lip and palate | MP:0013906 | absent embryonic telencephalon | absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops |
| HP:0000437 | Depressed nasal tip | MP:0013282 | urinary bladder exstrophy | a herniation of the urinary bladder through an anterior abdominal wall defect; refers to congenital absence of a portion of the lower anterior abdominal wall and the anterior urinary bladder wall, with eversion of the posterior bladder wall through the de |
| HP:0000612 | Iris coloboma | MP:0013791 | absent external nares | absence or failure to form both of the anterior openings to the nasal cavity |
| HP:0001943 | Hypoglycemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001743 | Abnormality of the spleen | 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:0001531 | Failure to thrive in infancy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0005469 | Flat occiput | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008872 | Feeding difficulties in infancy | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001332 | Dystonia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003312 | Abnormal form of the vertebral bodies | 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: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 |
| Disease ID | 232 |
|---|---|
| Disease | holoprosencephaly |
| Case | (Waiting for update.) |