eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pallister hall syndrome | ||||
| Disease ID | 580 |
|---|---|
| Disease | pallister hall syndrome |
| Definition | A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member. |
| Synonym | cave complex cave complices cerebroacrovisceral early lethality complex complex, cave complices, cave hall pallister syndrome hall-pallister syndrome hamartoblastoma syndrome, hypothalamic hamartoblastoma syndromes, hypothalamic hypothalamic hamartoblastoma syndrome hypothalamic hamartoblastoma syndromes hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly pallister-hall syndrome pallister-hall syndrome (disorder) pallister-hall syndrome [disease/finding] syndrome, hall-pallister syndrome, hypothalamic hamartoblastoma syndrome, pallister-hall syndromes, hypothalamic hamartoblastoma |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0265220 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:20) 257 | ALX3 | 2.311 | DISEASES 83605 | CCM2 | 2.2 | DISEASES 1717 | DHCR7 | 1.92 | DISEASES 2187 | FANCB | 2.661 | DISEASES 2736 | GLI2 | 1.723 | DISEASES 2737 | GLI3 | 7.01 | DISEASES 57657 | HCN3 | 3.604 | DISEASES 219844 | HYLS1 | 3.3 | DISEASES 10320 | IKZF1 | 1.636 | DISEASES 374654 | KIF7 | 4.056 | DISEASES 8481 | OFD1 | 2.727 | DISEASES 5727 | PTCH1 | 2.975 | DISEASES 8643 | PTCH2 | 2.556 | DISEASES 51715 | RAB23 | 2.915 | DISEASES 10284 | SAP18 | 4.068 | DISEASES 6628 | SNRPB | 2.14 | DISEASES 6899 | TBX1 | 2.595 | DISEASES 51366 | UBR5 | 2.182 | DISEASES 7481 | WNT11 | 2.562 | DISEASES 7546 | ZIC2 | 2.701 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 580 |
|---|---|
| Disease | pallister hall syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:55) HP:0000028 | Cryptorchidism HP:0001830 | Posterior polydactyly of foot HP:0002023 | Anal atresia HP:0003196 | Short nose HP:0000826 | Precocious puberty HP:0000463 | Nostrils anteverted HP:0000089 | Small kidneys HP:0001770 | Toe syndactyly HP:0002164 | Nail dysplasia HP:0008734 | Decreased testicular size HP:0000824 | Growth hormone deficiency HP:0001629 | Ventricular septal defects HP:0008163 | Decreased circulating cortisol level HP:0002444 | Hypothalamic hamartoma HP:0004322 | Stature below 3rd percentile HP:0002101 | Lung segmentation defects HP:0000126 | Hydronephrosis HP:0005151 | Proximal aortic coarctation HP:0000107 | Renal cyst HP:0000204 | Cleft upper lip HP:0005349 | Hypoplasia of the epiglottis HP:0000871 | Panhypopituitarism HP:0006159 | Interdigital finger polydactyly HP:0000695 | Natal teeth HP:0000358 | Ear, posterior angulation, increased HP:0001162 | Postaxial polydactyly of fingers HP:0001250 | Seizures HP:0000054 | Short penis HP:0006402 | Distal shortening of limbs HP:0000171 | Hypoglossia HP:0001263 | Developmental retardation HP:0003048 | Radial subluxation HP:0001643 | Persistent ductus arteriosus HP:0005280 | Flat, nasal bridge HP:0000835 | Hypoplastic adrenal glands HP:0010564 | Bifid epiglottis HP:0008751 | Laryngotracheal cleft HP:0003027 | Mesomelia HP:0008188 | Thyroid dysplasia HP:0000902 | Rib fusion HP:0010044 | Shortened 4th long bone of hand HP:0001511 | Prenatal onset growth retardation HP:0006042 | Y-shaped metacarpals HP:0000110 | Renal dysplasia HP:0000413 | External auditory meatal atresia HP:0002937 | Hemivertebra HP:0000072 | Megaureter HP:0010112 | Mesoaxial foot polydactyly HP:0002827 | Hip dislocation HP:0000568 | Abnormally small globe of eye HP:0012165 | Oligodactyly HP:0008706 | Distal urethral duplication HP:0008551 | Hypoplasia of the external ear HP:0001360 | Single brain ventricle HP:0007601 | Midline facial capillary hemangioma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0010566 | Hamartoma | 2 HP:0002444 | Hypothalamic hamartoma | 2 HP:0012469 | Infantile spasms | 1 HP:0000078 | Genital abnormalities | 1 |
| Disease ID | 580 |
|---|---|
| Disease | pallister hall syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:30) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs115857753 | 21552264 | 374654 | KIF7 | umls:C0265220 | UNIPROT | KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. | 0.12 | 2011 | KIF7 | 15 | 89645920 | G | A,C |
| rs116840742 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41972439 | TCGG | - |
| rs116840743 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41972428 | C | - |
| rs116840744 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41972417 | C | - |
| rs116840745 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41972408 | C | - |
| rs116840746 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | NA | NA | NA | NA | NA |
| rs116840747 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41972378 | C | A |
| rs116840748 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41967917 | G | A |
| rs116840749 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41967888 | G | - |
| rs116840750 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41967881 | G | A |
| rs116840751 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41967878 | G | A |
| rs116840752 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41967870 | G | - |
| rs116840753 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41967854 | - | G |
| rs116840754 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41967821 | CTCCATCGGTCAGAGGAAG | - |
| rs116840755 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41967829 | GT | - |
| rs116840756 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41967671 | CTTGTTTTAGC | - |
| rs116840757 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41967672 | TTGTT | - |
| rs116840758 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41967595 | C | T |
| rs116840759 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41966590 | G | - |
| rs116840760 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41966506 | G | T |
| rs116840761 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41966453 | G | - |
| rs116840762 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41966445 | G | - |
| rs116840763 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41966274 | G | C |
| rs116840764 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41966138 | A | - |
| rs116840765 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41966069 | C | - |
| rs116840766 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41965749 | G | C |
| rs116840768 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41965634 | C | G,A |
| rs116840769 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41965617 | C | A |
| rs116840770 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41965592 | G | A |
| rs281864935 | NA | 2737 | GLI3 | umls:C0265220 | CLINVAR | NA | 0.449977336 | NA | GLI3 | 7 | 41965686 | AA | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:31) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000902 | Rib fusion | MP:0010082 | sternebra fusion | appearance of one or more sternebrae as a single structure |
| HP:0001643 | Patent ductus arteriosus | MP:0011662 | persistent truncus arteriosus type ii | complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches fro |
| HP:0008751 | Laryngeal cleft | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| 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:0005349 | Hypoplasia of the epiglottis | MP:0008163 | increased diameter of ulna | increased width of the cross-sectional distance that extends from one lateral edge of the ulna, through its center and to the opposite lateral edge |
| HP:0002101 | Abnormal lung lobation | MP:0010975 | abnormal lung lobe morphology | any structural anomaly of any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung, where each lobe receives air from its own secondary bronchus and is separated from it neighbors by one or more fissures (walls |
| HP:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d |
| HP:0001770 | Toe syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0007601 | Midline facial capillary hemangioma | MP:0003743 | abnormal facial morphology | any structural anomaly of the face |
| HP:0008734 | Decreased testicular size | MP:0003205 | testicular atrophy | acquired diminution of the size of the testis 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 cha |
| HP:0010112 | Mesoaxial foot polydactyly | MP:0009743 | preaxial polydactyly | duplication of all or part of the first ray on one or more of the autopods |
| 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:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0010564 | Bifid epiglottis | MP:0010371 | abnormal epiglottis morphology | any structural anomaly of the most superior of the laryngeal cartilages, which is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink |
| HP:0006402 | Distal shortening of limbs | MP:0008163 | increased diameter of ulna | increased width of the cross-sectional distance that extends from one lateral edge of the ulna, through its center and to the opposite lateral edge |
| HP:0000824 | Growth hormone deficiency | MP:0003965 | abnormal pituitary hormone level | aberration in the blood or tissue concentration of any of the hormones secreted by the pituitary |
| HP:0010044 | Short 4th metacarpal | MP:0003073 | abnormal metacarpal bone morphology | any structural anomaly in the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges |
| HP:0000695 | Natal tooth | MP:0002100 | abnormal tooth morphology | atypical size, shape or hard tissue structure of the teeth |
| HP:0002023 | Anal atresia | MP:0006130 | pulmonary valve atresia | congenital closure of the pulmonary valve |
| HP:0006159 | Mesoaxial 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:0000089 | Renal hypoplasia | MP:0012085 | midface hypoplasia | underdevelopment of the midfacial region comprising the nasal, maxillary, and zygomatic bones, leading to a concave-looking face |
| HP:0005151 | Preductal coarctation of the aorta | MP:0008163 | increased diameter of ulna | increased width of the cross-sectional distance that extends from one lateral edge of the ulna, through its center and to the opposite lateral edge |
| HP:0000413 | Atresia of the external auditory canal | 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: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:0003048 | Radial head subluxation | MP:0000432 | abnormal head morphology | any structural anomaly of the portion of the body containing the brain and organs of sight, hearing, taste, and smell |
| 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:0001830 | Postaxial foot 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:0008163 | Decreased circulating cortisol level | MP:0005661 | decreased circulating adrenaline level | less than the normal concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels |
| HP:0000204 | Cleft upper 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:0000107 | Renal cyst | MP:0003266 | biliary cyst | the appearance of fluid-filled sacs within the bile ducts |
Mapped by homologous gene(Total Items:55) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000695 | Natal tooth | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000902 | Rib fusion | 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:0012165 | Oligodactyly | 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:0006042 | Y-shaped metacarpals | 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: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:0003027 | Mesomelia | 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:0001830 | Postaxial foot polydactyly | 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:0002164 | Nail dysplasia | 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:0000463 | Anteverted nares | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002101 | Abnormal lung lobation | 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: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:0010044 | Short 4th metacarpal | 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:0000824 | Growth hormone deficiency | 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:0000110 | Renal dysplasia | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0008551 | Microtia | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000107 | Renal cyst | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000413 | Atresia of the external auditory canal | 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:0001770 | Toe syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000171 | Microglossia | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0003048 | Radial head subluxation | 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:0010564 | Bifid epiglottis | 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:0000126 | Hydronephrosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008751 | Laryngeal cleft | 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: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:0000204 | Cleft upper lip | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0002827 | Hip dislocation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005151 | Preductal coarctation of the aorta | 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:0000358 | Posteriorly rotated ears | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002937 | Hemivertebrae | 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:0006402 | Distal shortening of limbs | 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:0001643 | Patent ductus arteriosus | 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:0000835 | Adrenal hypoplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005349 | Hypoplasia of the epiglottis | MP:0013906 | absent embryonic telencephalon | absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops |
| 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: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:0000826 | Precocious puberty | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008734 | Decreased testicular size | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002444 | Hypothalamic hamartoma | 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:0008188 | Thyroid dysgenesis | 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:0000072 | Hydroureter | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0008706 | Distal urethral duplication | 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: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:0007601 | Midline facial capillary hemangioma | 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:0000089 | Renal hypoplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010112 | Mesoaxial foot polydactyly | 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:0008163 | Decreased circulating cortisol level | MP:0013565 | abnormal adrenal gland capsule morphology | any structural anomaly of the thick capsule of dense irregular connective tissue that surrounds each adrenal gland and contains scattered elastic fibers; the capsule contains a rich plexus of blood vessels (mainly small arteries) and numerous nerve fibers |
| HP:0006159 | Mesoaxial hand polydactyly | 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: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 |
| Disease ID | 580 |
|---|---|
| Disease | pallister hall syndrome |
| Case | (Waiting for update.) |