eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| roberts syndrome | ||||
| Disease ID | 233 |
|---|---|
| Disease | roberts syndrome |
| Definition | A rare, autosomal recessive inherited syndrome caused by mutations in the ESCO2 gene. It is characterized by limb and facial abnormalities and slow growth. Intellectual impairment occurs in approximately half of the affected individuals. |
| Synonym | appelt-gerken-lenz syndrome hypomelia hypotrichosis facial haemangioma syndrome hypomelia hypotrichosis facial hemangioma syndrome hypomelia-hypotrichosis-facial haemangioma syndrome hypomelia-hypotrichosis-facial hemangioma syndrome long bone deficiencies associated with cleft lip-palate phocomelia-pseudothalidomide syndrome pseudothalidomide syndrome rbs robert syndrome robert's syndrome roberts tetraphocomelia syndrome roberts-sc phocomelia syndrome roberts-sc phocomelia syndrome (disorder) sc phocomelia syndrome sc pseudothalidomide syndrome sc syndrome syndrome robert tetraphocomelia-cleft palate syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0392475 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0339204 | staphyloma | 2 C0007766 | intracranial aneurysms | 1 C0004106 | astigmatism | 1 C0007766 | cranial aneurysm | 1 C0700594 | radiculopathy | 1 C0007766 | intracranial aneurysm | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:16) 174 | AFP | 1.548 | DISEASES 257 | ALX3 | 2.522 | DISEASES 1663 | DDX11 | 3.456 | DISEASES 1978 | EIF4EBP1 | 2.444 | DISEASES 3619 | INCENP | 3.536 | DISEASES 55384 | MEG3 | 3.427 | DISEASES 54820 | NDE1 | 3.079 | DISEASES 9939 | RBM8A | 4 | DISEASES 6194 | RPS6 | 2.103 | DISEASES 51750 | RTEL1 | 2.381 | DISEASES 8243 | SMC1A | 4.107 | DISEASES 8243 | SMC1A | 2.718 | DISEASES 9126 | SMC3 | 5.546 | DISEASES 9126 | SMC3 | 4.222 | DISEASES 7702 | ZNF143 | 3.219 | DISEASES 11130 | ZWINT | 3.718 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) ESCO2 | 8p21.1 |
| Disease ID | 233 |
|---|---|
| Disease | roberts syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:54) HP:0000639 | Nystagmus HP:0000028 | Cryptorchidism HP:0001263 | Global developmental delay HP:0000470 | Short neck HP:0000520 | Proptosis HP:0006487 | Bowing of the long bones HP:0000568 | Microphthalmia HP:0000518 | Cataract HP:0009943 | Complete duplication of thumb phalanx HP:0000248 | Brachycephaly HP:0000592 | Blue sclerae HP:0008846 | Severe intrauterine growth retardation HP:0000218 | High palate HP:0008897 | Postnatal growth retardation HP:0001156 | Brachydactyly syndrome HP:0007598 | Bilateral single transverse palmar creases HP:0000347 | Micrognathia HP:0006101 | Finger syndactyly HP:0001873 | Thrombocytopenia HP:0002564 | Malformation of the heart and great vessels HP:0000316 | Hypertelorism HP:0000204 | Cleft upper lip HP:0001239 | Wrist flexion contracture HP:0001561 | Polyhydramnios HP:0000040 | Long penis HP:0001852 | Sandal gap HP:0009829 | Phocomelia HP:0005876 | Progressive flexion contractures HP:0005011 | Mesomelic arm shortening HP:0000175 | Cleft palate HP:0002984 | Hypoplasia of the radius HP:0000252 | Microcephaly HP:0000057 | Clitoromegaly HP:0001622 | Premature birth HP:0008070 | Sparse hair HP:0009623 | Proximal placement of thumb HP:0000272 | Malar flattening HP:0004209 | Clinodactyly of the 5th finger HP:0006443 | Patellar aplasia HP:0001249 | Intellectual disability HP:0002974 | Radioulnar synostosis HP:0009601 | Aplasia/Hypoplasia of the thumb HP:0001363 | Craniosynostosis HP:0007452 | Midface capillary hemangioma HP:0009466 | Radial deviation of finger HP:0005048 | Synostosis of carpal bones HP:0006380 | Knee flexion contracture HP:0000113 | Polycystic kidney dysplasia HP:0009891 | Underdeveloped supraorbital ridges HP:0002817 | Abnormality of the upper limb HP:0008572 | External ear malformation HP:0000501 | Glaucoma HP:0000387 | Absent earlobe HP:0000430 | Underdeveloped nasal alae |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0030854 | Scleral staphyloma | 2 HP:0000483 | Astigmatism | 1 HP:0009829 | Phocomelia | 1 HP:0000271 | Abnormal face | 1 HP:0004944 | Cerebral artery aneurysm | 1 HP:0002617 | Aneurysmal dilatation | 1 |
| Disease ID | 233 |
|---|---|
| Disease | roberts syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:28) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs146312522 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27788890 | G | A |
| rs797045565 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27780206 | A | TTTTAT |
| rs797045566 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27780223 | - | A |
| rs80359844 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27776560 | AT | - |
| rs80359845 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27776602 | GAGA | - |
| rs80359846 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27776615 | AAAGA | - |
| rs80359847 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27776616 | AA | - |
| rs80359848 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27776725 | - | A |
| rs80359849 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27776813 | C | T |
| rs80359850 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27776912 | C | T |
| rs80359851 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27777053 | GT | - |
| rs80359852 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27777059 | - | A,G |
| rs80359853 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27777068 | - | A |
| rs80359854 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27777068 | A | - |
| rs80359855 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27777072 | TT | - |
| rs80359856 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27780187 | ACAG | - |
| rs80359857 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27780191 | AG | - |
| rs80359858 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27780269 | TAAG | - |
| rs80359859 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27787982 | - | A,G |
| rs80359861 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27788003 | G | A |
| rs80359862 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27788840 | A | G |
| rs80359863 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27788979 | G | C |
| rs80359864 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27791968 | G | A |
| rs80359865 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27792650 | G | A |
| rs80359866 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27792775 | AG | - |
| rs80359867 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27799640 | - | T,TG |
| rs80359868 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27799658 | T | G |
| rs80359869 | NA | 157570 | ESCO2 | umls:C0392475 | CLINVAR | NA | 0.483257302 | NA | ESCO2 | 8 | 27803304 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:23) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | 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:0006101 | Finger syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0005048 | Synostosis of carpal bones | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0002984 | Hypoplasia of the radius | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0008070 | Sparse hair | MP:0010202 | focal dorsal hair loss | focal hair loss on the dorsal area of a rodent resulting in dorsal skin visible in a patch where hair loss occurs |
| HP:0006487 | Bowing of the long bones | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0004209 | Clinodactyly of the 5th finger | 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:0008897 | Postnatal 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:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| 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:0009623 | Proximal placement of thumb | 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:0009943 | Complete duplication of thumb phalanx | MP:0006241 | abnormal placement of pupils | abnormal location of the pupil so that it is not in the center of the iris |
| HP:0009466 | Radial deviation of finger | 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:0000113 | Polycystic kidney dysplasia | MP:0011565 | kidney papillary hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the apex of the renal pyramid that normally projects into a calyx |
| HP:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| 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:0001622 | Premature birth | MP:0009703 | decreased birth body size | reduction in average body size at birth compared to controls |
| 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:0002974 | Radioulnar synostosis | MP:0000566 | synostosis | osseous union of two bones that are not normally connected |
| HP:0000040 | Long penis | MP:0005188 | small penis | reduced size of the organ of copulation and urination in the male |
| HP:0000430 | Underdeveloped nasal alae | MP:0004471 | short nasal bone | reduced length of either of two rectangular bone plates forming the bridge of the nose |
Mapped by homologous gene(Total Items:52) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0002974 | Radioulnar synostosis | 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:0008846 | Severe intrauterine growth retardation | MP:0011094 | embryonic lethality before implantation, complete penetrance | death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5) |
| HP:0008897 | Postnatal growth retardation | 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:0009829 | Phocomelia | MP:0011966 | abnormal auditory brainstem response waveform shape | any anomaly in the characteristic pattern of electrical activity recording of a series of vertex positive waves generated by neurons in the ascending auditory system, that can be recorded from scalp electrograms by using computer-averaged responses to sho |
| HP:0000592 | Blue sclerae | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001852 | Sandal gap | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| 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:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0009943 | Complete duplication of thumb phalanx | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| 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:0001239 | Wrist flexion contracture | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001363 | Craniosynostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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: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:0006443 | Patellar aplasia | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0000204 | Cleft upper lip | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000057 | Clitoromegaly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000248 | Brachycephaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009466 | Radial deviation of finger | 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:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0006380 | Knee flexion contracture | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0006487 | Bowing of the long bones | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0006101 | Finger syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000387 | Absent earlobe | MP:0011098 | embryonic lethality during organogenesis, complete penetrance | death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0001561 | Polyhydramnios | 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: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:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000470 | Short neck | 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:0001622 | Premature birth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000113 | Polycystic kidney dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007452 | Midface capillary hemangioma | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000639 | Nystagmus | 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:0009891 | Underdeveloped supraorbital ridges | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000430 | Underdeveloped nasal alae | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000272 | Malar flattening | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004209 | Clinodactyly of the 5th finger | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0002984 | Hypoplasia of the radius | 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:0005876 | Progressive flexion contractures | MP:0012010 | parturition failure | the process of labor and delivery in female animals does not initiate or complete |
| HP:0008070 | Sparse hair | 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:0009623 | Proximal placement of thumb | 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:0005048 | Synostosis of carpal bones | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000040 | Long penis | MP:0014193 | decreased epididymal cell proliferation | decrease in the expansion rate of any epididymal cell population by cell division |
| Disease ID | 233 |
|---|---|
| Disease | roberts syndrome |
| Case | (Waiting for update.) |