eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hallermann-streiff syndrome | ||||
| Disease ID | 627 |
|---|---|
| Disease | hallermann-streiff syndrome |
| Definition | An oculomandibulofacial syndrome principally characterized by dyscephaly (usually brachycephaly), parrot nose, mandibular hypoplasia, proportionate nanism, hypotrichosis, bilateral congenital cataracts, and microphthalmia. (Dorland, 27th ed) |
| Synonym | dyscephalic syndrome, francois dyscephalic syndromes, francois francois dyscephalic syndrome francois dyscephalic syndromes hallerman - streif syndrome hallerman streiff syndrome hallerman-streiff syndrome hallermann streiff francois syndrome hallermann streiff syndrome hallermann syndrome hallermann's syndrome hallermann's syndrome [disease/finding] hallermann-streiff syndrome (disorder) hallermanns syndrome hss oculomandibulodyscephaly with hypotrichosis syndrome oculomandibulofacial syndrome syndrome, francois dyscephalic syndrome, hallermann's syndrome, hallermann-streiff syndromes, francois dyscephalic |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0018522 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0020678 | hypotrichosis | 1 C0014306 | enophthalmos | 1 C0035305 | retinal detachment | 1 C0035305 | retinal detachments | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:11) 54880 | BCOR | 3.044 | DISEASES 617 | BCS1L | 3.869 | DISEASES 2066 | ERBB4 | 2.16 | DISEASES 2705 | GJB1 | 2.439 | DISEASES 57165 | GJC2 | 3.409 | DISEASES 23463 | ICMT | 3.663 | DISEASES 3481 | IGF2 | 2.353 | DISEASES 3590 | IL11RA | 4.269 | DISEASES 4000 | LMNA | 2.124 | DISEASES 4958 | OMD | 1.764 | DISEASES 10269 | ZMPSTE24 | 3.346 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 627 |
|---|---|
| Disease | hallermann-streiff syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:50) HP:0000157 | Abnormality of the tongue HP:0000028 | Cryptorchidism HP:0000160 | Narrow mouth HP:0000639 | Nystagmus HP:0000896 | Rib exostoses HP:0003508 | Proportionate short stature HP:0000568 | Microphthalmia HP:0000695 | Natal tooth HP:0000535 | Sparse eyebrow HP:0001006 | Hypotrichosis HP:0000545 | Myopia HP:0000453 | Choanal atresia HP:0000248 | Brachycephaly HP:0000929 | Abnormality of the skull HP:0001321 | Cerebellar hypoplasia HP:0001635 | Congestive heart failure HP:0000773 | Short ribs HP:0000347 | Micrognathia HP:0000506 | Telecanthus HP:0002007 | Frontal bossing HP:0010719 | Abnormality of hair texture HP:0002564 | Malformation of the heart and great vessels HP:0000486 | Strabismus HP:0000164 | Abnormality of the teeth HP:0002231 | Sparse body hair HP:0002779 | Tracheomalacia HP:0001773 | Short foot HP:0000554 | Uveitis HP:0002093 | Respiratory insufficiency HP:0003363 | Abdominal situs inversus HP:0000252 | Microcephaly HP:0000162 | Glossoptosis HP:0002757 | Recurrent fractures HP:0000519 | Congenital cataract HP:0000272 | Malar flattening HP:0004209 | Clinodactyly of the 5th finger HP:0200055 | Small hand HP:0000653 | Sparse eyelashes HP:0001249 | Intellectual disability HP:0002705 | High, narrow palate HP:0001596 | Alopecia HP:0000505 | Visual impairment HP:0004334 | Dermal atrophy HP:0000444 | Convex nasal ridge HP:0000235 | Abnormality of the fontanelles or cranial sutures HP:0004349 | Reduced bone mineral density HP:0000501 | Glaucoma HP:0011069 | Increased number of teeth HP:0000821 | Hypothyroidism HP:0000430 | Underdeveloped nasal alae |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 627 |
|---|---|
| Disease | hallermann-streiff syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:22) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000160 | Narrow mouth | MP:0000452 | abnormal mouth morphology | any structural anomaly of the oral cavity |
| HP:0000773 | Short ribs | MP:0004672 | short ribs | reduced length of the bones forming the bony wall of the chest |
| HP:0003363 | Abdominal situs inversus | MP:0010854 | lung situs inversus | anomaly in the asymmetry of the lung such that lung lobes on both the left and right side have the morphology normally seen on the opposite side of the body |
| HP:0000453 | Choanal atresia | MP:0009510 | cecal atresia | congenital blockage or absence of the lumen of the cecum |
| HP:0000519 | Congenital cataract | MP:0001304 | cataract | complete or partial opacity of the lens |
| 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:0000235 | Abnormality of the fontanelles or cranial sutures | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
| HP:0003508 | Proportionate short stature | MP:0004708 | short lumbar vertebrae | reduced length of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae |
| HP:0000695 | Natal tooth | MP:0002100 | abnormal tooth morphology | atypical size, shape or hard tissue structure of the teeth |
| HP:0010719 | Abnormality of hair texture | 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:0002231 | Sparse body hair | MP:0010682 | abnormal hair follicle infundibulum morphology | any structural anomaly of the most proximal part of the hair follicle relative to the epidermis, extending from the sebaceous duct to the epidermal surface |
| HP:0004349 | Reduced bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
| HP:0001321 | Cerebellar hypoplasia | MP:0010422 | heart right ventricle hypoplasia | underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells |
| HP:0001773 | Short foot | MP:0008138 | absent podocyte foot process | absence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries |
| HP:0000444 | Convex nasal ridge | MP:0004471 | short nasal bone | reduced length of either of two rectangular bone plates forming the bridge of the nose |
| HP:0004334 | Dermal atrophy | MP:0011346 | renal tubule atrophy | acquired diminution of the size of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, |
| HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| HP:0011069 | Increased number of teeth | 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:0000157 | Abnormality of the tongue | 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: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:49) | ||||
|---|---|---|---|---|
| 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:0001773 | Short foot | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0200055 | Small hand | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000653 | Sparse eyelashes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003508 | Proportionate short stature | MP:0014176 | abnormal cilary zonule morphology | any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigment |
| HP:0001006 | Hypotrichosis | MP:0014082 | decreased small intestinal villus height | decreased height of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually accompanied by crypt elongation or hy |
| 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:0000486 | Strabismus | 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:0004334 | Dermal atrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002231 | Sparse body hair | MP:0014082 | decreased small intestinal villus height | decreased height of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually accompanied by crypt elongation or hy |
| HP:0000506 | Telecanthus | 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:0000535 | Sparse eyebrow | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP: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: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:0002705 | High, narrow palate | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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: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:0003363 | Abdominal situs inversus | MP:0013906 | absent embryonic telencephalon | absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops |
| HP:0000248 | Brachycephaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000444 | Convex nasal ridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001321 | Cerebellar hypoplasia | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP: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:0000554 | Uveitis | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0000160 | Narrow mouth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002779 | Tracheomalacia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000896 | Rib exostoses | MP:0012760 | decreased cranial neural crest cell proliferation | reduced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division |
| HP:0000162 | Glossoptosis | MP:0013292 | embryonic lethality prior to organogenesis | death prior to the completion of embryo turning (Mus: E9-9.5) |
| 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:0000157 | Abnormality of the tongue | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000430 | Underdeveloped nasal alae | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000272 | Malar flattening | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000545 | Myopia | 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:0010719 | Abnormality of hair texture | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0000773 | Short ribs | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004349 | Reduced bone mineral density | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0011069 | Increased number of teeth | 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:0000519 | Congenital cataract | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000505 | Visual impairment | 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: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:0000235 | Abnormality of the fontanelles or cranial sutures | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| 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:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 627 |
|---|---|
| Disease | hallermann-streiff syndrome |
| Case | (Waiting for update.) |