Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
telomerase reverse transcriptase
Synonyms:
TR

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tert mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Tert by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cervical Rib
Cervical ribs OMIM:117900
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Female hypogonadism, Male hypogonadism, Decreased serum testosterone c... ORPHA:52901
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... OMIM:609813
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Abnormality of the sense of smell, Hypogonadotropic hy... OMIM:146110
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo... OMIM:308750
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Anosmia, Decreased serum testosterone concentration, Decreased testicular size, Hy... OMIM:308700
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai... OMIM:122600
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Azoospermia, Hypogonadotropic hypogonadi... OMIM:235200
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased serum estradiol, Cerebral atrophy, Decreased testicular size, Peripheral demyelination,... OMIM:604168
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Scoliosis, Abnormal rib morphology ORPHA:3268
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Clusters of axonal regeneration, Decreased number of peripheral myelinated nerve fibers, Segmenta... OMIM:607734
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, Lateral ventricle dilatation, Cerebral atrophy, Basal ganglia calcification,... OMIM:221770
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Primary amenorrhea, Gonadal dysgenesis, Hypergonadotropic hypogonadism, Decreased number of perip... OMIM:607080
Myotonic Dystrophy 1
Cholelithiasis, Cerebral atrophy, Hypogonadism, Facial diplegia, Testicular atrophy, Dysphagia OMIM:160900
Chudley-Mccullough Syndrome
Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Hydrocephalus, Gra... OMIM:604213
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs OMIM:604919
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hyposmia OMIM:615266
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Leukoencephalopathy With Dystonia And Motor Neuropathy
Leukoencephalopathy, Azoospermia, Hyposmia, Hypergonadotropic hypogonadism OMIM:613724
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Abnormal r... ORPHA:2790
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:1354
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia, Absence of pubertal development, Decreased testicular size, Cryptorchidism, Hypogonadotr... OMIM:610628
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... OMIM:606482
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Anteverted nares, Intestinal malrotation OMIM:601163
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Onion bulb formation, Peripheral axonal neuropathy, Peripheral demyelination, Axonal degeneration... OMIM:620378
Kyphomelic Dysplasia
Narrow chest, Abnormal form of the vertebral bodies, Undulate ribs, Missing ribs, Anterior rib cu... ORPHA:1801
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Abnormal sacrum morphology, Vertebral segmentation defect, Missing ribs, Short neck... ORPHA:1797
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Cerebral atrophy, Secondary microcephaly, Peripheral demyelination, Hy... OMIM:617672
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Segmental peripheral demyelination/remyelination, Segmental peripheral demy... OMIM:606483
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenor... OMIM:614858
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Scoliosis, Ir... OMIM:187760
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Portal hypertension, Hypogonadotrop... ORPHA:465508
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Rib fusion,... OMIM:277300
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Cerebral calcification, Cirrhosis, T... OMIM:613987
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, P... OMIM:612702
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Prominent nose... OMIM:620317
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Peripheral demyelination, Decreased number of peripheral myelinated n... OMIM:118200
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Anosmia, Hypogonadism, Decreased testicular size, Azoospermia, Decreas... OMIM:614897
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Basal lamina onion bulb formation, Peripheral demyelination, Decreased number of peripheral myeli... OMIM:614895
Wolfram Syndrome 1
Optic atrophy, Cerebral atrophy, Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Dysp... OMIM:222300
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Axonal degene... OMIM:214400
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Hypogo... ORPHA:1135
Bone Marrow Failure Syndrome 5
Oral leukoplakia, Hypogonadism, Erythroid hypoplasia, Microcephaly, Anemia, Testicular atrophy, P... OMIM:618165
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Decreased testicular size, Hypogonadotropic hypogonadism, Bifid nose, Micropenis, Cleft ... OMIM:614838
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends ORPHA:168555
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Anosmia, Cryptorchidism, Agenesis of corpus callosum, Hypogonadotropic hypogonad... OMIM:147950
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Pseudobulbar paralysis, Corpus callosum atrophy, Gliosis, Diffuse leukoencephalop... OMIM:169500
Bardet-Biedl Syndrome 19
Hypogonadism, External genital hypoplasia, Hepatic steatosis, Hypoplasia of the corpus callosum, ... OMIM:615996
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Peripheral demyelination, Myelin tomacula, Decreased number of periph... OMIM:145900
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia, Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism,... OMIM:614837
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers, Periphe... OMIM:118210
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... OMIM:180800
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Peripheral demyelination, Abnormal periventricular white matter morphology, CNS demyelination, Dy... OMIM:249900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Segmental per... OMIM:118220
N Syndrome
Abnormality of chromosome stability OMIM:310465
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Anosmia, Decreased circulating gonadotropin concentration, Decreased s... OMIM:614841
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Hypoplasia of the uterus, Abnormal vagina morpholog... ORPHA:168563
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation, Impaired oropharyngeal swallow response ORPHA:98916
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Peripheral demyelination, Onion bulb formation OMIM:615185
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral myelinated ner... OMIM:620542
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Anosmia, Hypogonadism, Reduced response to gonadotropin-releasing horm... OMIM:616030
Subacute Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Leukocytosis, Axonal loss, Demyelinating motor neuropathy, Diffuse peri... ORPHA:206594
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Anosmia, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Mi... OMIM:614880
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Charcot-Marie-Tooth Disease, Type 4C
Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Axonal degeneration, Periph... OMIM:601596
Aarskog-Scott Syndrome
Wide nasal bridge, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decr... OMIM:305400
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs OMIM:617405
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral demyelination, Clusters of axonal regeneration, Chronic axonal neuropathy, Peripheral ... ORPHA:101097
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Cryptorchidism, Cleft palate OMIM:612370
Krabbe Disease
Optic atrophy, Peripheral demyelination, Diffuse cerebral atrophy, CNS demyelination, Hydrocephal... OMIM:245200
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Dysphagia, Axonal degeneration/regeneration OMIM:607736
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Micropenis, Cleft pal... OMIM:244200
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation OMIM:311070
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Anosmia, Cerebral atrophy, Short-segment aganglionic megacolon, Peripheral demyelination, Hepatos... OMIM:609136
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul... OMIM:608340
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Weiss-Kruszka Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Dysplastic corpus callosum... ORPHA:502430
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation OMIM:608236
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Depressed nasal bridge, Hypogonadism, Microcephaly, Short nasal septum, Short nose OMIM:302950
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formation OMIM:601098
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Null Syndrome
Optic atrophy, Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy ORPHA:280234
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Pelizaeus-Merzbacher Disease
Optic atrophy, CNS hypomyelination, Sudanophilic leukodystrophy, Reduction of oligodendroglia, Mi... OMIM:312080
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Leukodystrophy, Peripheral demyelination, Corpus callosum atrophy, Abnormal cerebr... OMIM:614877
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation, Hypoplasia of the corpus callosum OMIM:615035
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Multiple rib fractures, Pectus excavatum, Scoliosis, Kyphosis OMIM:259440
Metatropic Dysplasia
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Long thorax,... ORPHA:2635
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Hypoplasia of the corpus callosum, Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Huntington Disease
Degeneration of the striatum, Oral-pharyngeal dysphagia, Cerebral atrophy, Abnormality of the sen... ORPHA:399
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Onion bulb formation, Peripheral hypomyelination OMIM:605253
Lissencephaly Syndrome, Norman-Roberts Type
Wide nasal bridge, 4-layered lissencephaly, Cerebral calcification, Hypoplasia of the corpus call... ORPHA:89844
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Anosmia, Decreased serum testosterone concentration, Hypothalamic gona... OMIM:618841
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel... OMIM:609311
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Delayed puberty, Hyposmia OMIM:615271
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration/regeneration, Decreased... OMIM:607706
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy OMIM:608673
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Chronic Inflammatory Demyelinating Polyneuropathy
Segmental peripheral demyelination/remyelination, Peripheral demyelination ORPHA:2932
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hypogonadism, Absence of pubertal development, Anosmia OMIM:615267
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Peripheral demyelination, Onion bulb formation OMIM:618279
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum OMIM:613162
Adult Krabbe Disease
Abnormal corpus callosum morphology, Peripheral demyelination, Abnormal corticospinal tract morph... ORPHA:206448
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Anosmia, Delayed puberty OMIM:615270
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Sensory axonal neuropathy, Primary amenorrhea, Testicular atrophy, Premature ovarian insufficienc... OMIM:157640
Multiple Sulfatase Deficiency
Cerebral atrophy, Peripheral demyelination, Anteverted nares, Abnormal periventricular white matt... OMIM:272200
Hydrolethalus
Bifid uvula, Cryptorchidism, Submucous cleft hard palate, Abnormality of the sense of smell, Agen... ORPHA:2189
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy, Delayed myelination ORPHA:599373
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti... ORPHA:500166
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve ... OMIM:609260
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip... OMIM:604563
Lissencephaly Due To Tuba1A Mutation
Dysgenesis of the basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, Agenesis of c... ORPHA:171680
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination OMIM:616684
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal astrocyte morphology, CNS demyelination, A... ORPHA:217260
Charcot-Marie-Tooth Disease Type 4G
Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy ORPHA:99953
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Short neck, Abnormal rib morphology ORPHA:2578
Septo-Optic Dysplasia Spectrum
Anosmia, Cryptorchidism, Absent septum pellucidum, Agenesis of corpus callosum, Tracheoesophageal... ORPHA:3157
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly, Motor axonal neuropathy OMIM:618276
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic... OMIM:617087
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Peripheral axonal atrophy, Axonal degeneration/regeneration, Decreased numb... OMIM:605588
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination OMIM:162500
8P11.2 Deletion Syndrome
Anosmia, Depressed nasal bridge, Hypogonadism, Azoospermia, Cryptorchidism, Splenomegaly, Hypogon... ORPHA:251066
Tangier Disease
Peripheral demyelination, Facial diplegia, Splenomegaly, Peripheral axonal neuropathy, Hepatomegaly OMIM:205400
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Lateral clavicle hook OMIM:615633
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy ORPHA:497764
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Abnormality of the s... OMIM:616113
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers OMIM:618184
Kallmann Syndrome
Anosmia, Abnormal morphology of female internal genitalia, Breast hypoplasia, Hypothalamic gonado... ORPHA:478
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination ORPHA:99944
Mitochondrial Neurogastrointestinal Encephalomyopathy
Leukoencephalopathy, Gastroesophageal reflux, Peripheral axonal neuropathy, Hypogonadotropic hypo... ORPHA:298
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Axonal regeneration, Onion bulb formation OMIM:608323
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Oral-pharyngeal dysphagia, Peripheral hypomyelination OMIM:616287
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Onion bulb formation OMIM:610100
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation... OMIM:613686
Poland Syndrome
Rib fusion, Sprengel anomaly, Hemivertebrae, Short ribs OMIM:173800
Abetalipoproteinemia
Peripheral demyelination, Fat malabsorption, CNS demyelination, Acanthocytosis OMIM:200100
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Hyperlordosis, Abnormal rib morphology, Pectus excavatu... ORPHA:2522
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Axonal regeneration, Peripheral hyp... OMIM:605285
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination ORPHA:71211
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hyperintensity of cerebral white matter on MRI, Hypogonadotropic hypogonadism, Cerebral cortical ... ORPHA:48431
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Becker Nevus Syndrome
Pectus carinatum, Rib fusion, Supernumerary ribs, Spina bifida occulta, Pectus excavatum, Scolios... ORPHA:64755
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Anosmia, Hypogonadotropic hypogonadism, Decreased circulating luteiniz... OMIM:614842
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Osteogenesis Imperfecta, Type Xv
Thin ribs, Platyspondyly, Scoliosis OMIM:615220
Johnson Neuroectodermal Syndrome
Choanal atresia, Anosmia, Hypogonadism, Bulbous nose, Microcephaly, Facial palsy, Cleft palate ORPHA:2316
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Abnormal periventricular white matter morphology, Hypoplasia of the co... OMIM:604360
Combined Oxidative Phosphorylation Deficiency 54
Secondary microcephaly, Periventricular nodular heterotopia, Periventricular white matter hyperin... OMIM:619737
Lesch-Nyhan Syndrome
Testicular atrophy, Vomiting, Dysphagia OMIM:300322
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary ameno... OMIM:614839
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Onion bulb formation, Peripheral hypomyelination OMIM:611228
Fibrochondrogenesis 2
Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cupped ribs OMIM:614524
Charcot-Marie-Tooth Disease, Axonal, Type 2E
High palate, Facial palsy, Onion bulb formation OMIM:607684
Ciliary Dyskinesia, Primary, 1
Anosmia, Nasal polyposis, Male infertility, Chronic rhinitis, Asplenia, Communicating hydrocephal... OMIM:244400
Charcot-Marie-Tooth Disease, Type 4B1
Irregular myelin loops, Facial palsy, Myelin outfoldings OMIM:601382
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Diffuse white matter abnormalities, Facial diplegia, Axonal degeneration/regen... OMIM:218000
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology ORPHA:2234
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Bifid scrotum, Hypogonadotropic hypogonadism, Abnormal nostril morphology, Hypoplasia of... ORPHA:1295
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Cerebral cortical atrophy, Sensory axonal neuropathy, Decreased number of large pe... OMIM:271245
Molybdenum Cofactor Deficiency, Type B
Cerebral atrophy, Peripheral demyelination, Hypoplasia of the corpus callosum, Diffuse cerebral a... OMIM:252160
X-Linked Intellectual Disability, Snyder Type
Abnormality of the Leydig cells, Bulbous nose, Anteverted nares, Prominent nasal bridge, Cryptorc... ORPHA:3063
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Peripheral axonal atrophy, Axonal degeneration/regeneration, Decreased number of peripheral myeli... OMIM:600882
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Narrow chest, Hypoplasia of the odontoid process, Caudal appendage,... OMIM:156530
Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Optic nerv... ORPHA:250972
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Peripheral demyelination, Achalasia OMIM:609033
Mucolipidosis Iv
Optic atrophy, Hypergastrinemia, Dysplastic corpus callosum, Microcephaly, Achlorhydria, Cerebral... OMIM:252650
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Hyperinsulinemia, Decreased fertility, ... ORPHA:273
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia, Delayed puberty OMIM:274190
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Gliosis, Axonal degeneration, Decreased number of peripheral... OMIM:604484
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Narrow chest, Posterior wedging of vertebral bodies, Thoracic hypoplasia, Aplasia/... ORPHA:168549
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Abnormal clavicle morphology, Short neck, Abnormal rib morphology ORPHA:93267
Peho Syndrome
Optic atrophy, Polymicrogyria, Peripheral dysmyelination, Hypoplasia of the corpus callosum, Prog... OMIM:260565
Mirage Syndrome
Gastroesophageal reflux, Microphallus, Esophageal stricture, Decreased testicular size, Adrenal i... OMIM:617053
Holoprosencephaly
Aplasia/Hypoplasia of the corpus callosum, Abnormality of the spleen, Cryptorchidism, Encephaloce... ORPHA:2162
Immunodeficiency 54
Chromosome breakage OMIM:609981
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal rib morphology, Scoliosis... OMIM:118100
Charcot-Marie-Tooth Disease Type 2B1
Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor ax... ORPHA:98856
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Short thorax, Abnormal sternum morphology, Abnormal r... ORPHA:474
Autosomal Recessive Spondylocostal Dysostosis
Short thorax, Abnormal form of the vertebral bodies, Rib segmentation abnormalities, Vertebral se... ORPHA:2311
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Bilateral cryptorchidism, Decreased testicular size, Hypogonadotropic hypogonadi... ORPHA:2326
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... OMIM:302800
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination, Cholecystitis, Gallbladder dysfunction, Abnormal cerebra... OMIM:250100
Ataxia-Telangiectasia
Abnormality of chromosome stability ORPHA:100
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Bardet-Biedl Syndrome 17
Hypogonadism, Anosmia, Micropenis, Hyposmia OMIM:615994
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Dysplastic corpus callosum, Hypospadias, Cryptorchidism OMIM:620135
Molybdenum Cofactor Deficiency, Type A
Cerebral atrophy, Peripheral demyelination, Hypoplasia of the corpus callosum, Microcephaly, Glio... OMIM:252150
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Submucous cleft hard palate, Abnormality of the sense of smell, Microcephaly... ORPHA:3201
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Solitary Median Maxillary Central Incisor
Choanal atresia, Anosmia, Decreased response to growth hormone stimulation test, Midnasal stenosi... OMIM:147250
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Mosaic Trisomy 14
Short neck, Narrow chest, Abnormal rib morphology ORPHA:1703
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Kleine-Levin Syndrome
Decreased libido, Parosmia ORPHA:33543
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers OMIM:615376
Charcot-Marie-Tooth Disease, Type 4B3
Microcephaly, Onion bulb formation, Myelin outfoldings OMIM:615284
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Anosmia, Hyperinsulinemia, Hyposmia OMIM:617885
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Segmental peripheral demyelination/remyelination, Onion bulb formation OMIM:601455
Hyperostosis Cranialis Interna
Optic atrophy, Facial palsy, Anosmia, Hyposmia OMIM:144755
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Peripheral axonal neuropathy, Cerebral atrophy, Decreased number of peripheral myelinated nerve f... OMIM:607250
Hypogonadotropic Hypogonadism 27 Without Anosmia
Anosmia, Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal... OMIM:619755
8Q21.11 Microdeletion Syndrome
Underdeveloped nasal alae, Aplasia/Hypoplasia of the corpus callosum, Cryptorchidism, Abnormality... ORPHA:284160
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Lumbar hyperlordosis, Cupped ribs, Beaking of vertebral bodies, Scoliosis, Irregul... OMIM:609616
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormal rib morphology, ... ORPHA:2180
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebral atrophy, Bulbous nose, Anteverted nares, Prominent nasal bridge, Small basal ganglia, Pe... OMIM:616900
Autosomal Spastic Paraplegia Type 58
Microcephaly, Peripheral demyelination, Abnormal cerebral white matter morphology, Cerebral atrophy ORPHA:397946
Kapur-Toriello Syndrome
Polymicrogyria, Intestinal malrotation, Bulbous nose, Dysplastic corpus callosum, Hypoplastic lab... ORPHA:2328
Achondrogenesis Type 1B
Short neck, Narrow chest, Abnormal rib morphology, Short thorax ORPHA:93298
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Choanal atresia, Cleft palate, Abnormality of the sense ... ORPHA:91412
Even-Plus Syndrome
Bifid nasal tip, Depressed nasal ridge, Agenesis of corpus callosum, Dysplastic corpus callosum, ... OMIM:616854
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Puberty and gonadal disorders, Hypoplasia of the corpus callosum, Delayed perip... ORPHA:464282
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1836
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Bifid uvula, Hyposmia, Hypogonadism, External genital hypoplasia, Cryptorchidism, Submuc... ORPHA:2250
Gorlin Syndrome
Wide nasal bridge, Cerebral calcification, Calcification of falx cerebri, Cryptorchidism, Abnorma... ORPHA:377
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Leukoencephalopathy, Optic atrophy, Cerebral atrophy, Peripheral demyelination, Periventricular w... ORPHA:79282
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Wide nasal bridge, Anteverted nares, Dysplastic corpus callosum, Peripheral axonal neuropathy, He... OMIM:618810
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:1486
White Forelock With Malformations
Spina bifida occulta, Sprengel anomaly, Abnormal rib morphology ORPHA:2475
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Onion bulb formation OMIM:614455
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Broad ribs, Spatulate ribs, Beaking of vertebral bodies, Hyperlor... OMIM:619698
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, Breast aplasia, Abnormality of the sense of smell, Hypogonadotr... ORPHA:570
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia, Abnormal cranial nerve morphology ORPHA:2057
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607831
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Sprengel anomaly, Abnormal rib morphology ORPHA:2097
Trigeminal Neuralgia
Peripheral demyelination, CNS demyelination, Cranial nerve compression ORPHA:221091
Meningioma
Increased circulating prolactin concentration, Neoplasm of the posterior pituitary, Enlarged pitu... ORPHA:2495
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia, Optic disc pallor, Optic atrophy, Axonal degeneration/regeneration OMIM:601152
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Depressed nasal bridge, Anteverted nares, Dysplastic corpus callosum, Microcephaly, High palate, ... OMIM:620001
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Fibrochondrogenesis
Narrow chest, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Broad ribs, Bell-shape... ORPHA:2021
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:2524
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Narrow vertebral interpedicular distance, Short neck, Scoliosis, Irregu... OMIM:618395
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Glutaric Acidemia I
Lateral ventricle dilatation, Symmetrical progressive peripheral demyelination, Hydrocephalus, He... OMIM:231670
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Wide nasal bridge, Anosmia, Frontalis muscle weakness OMIM:210745
Femoral-Facial Syndrome
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Abnormal rib morphology, Abnormal sa... ORPHA:1988
Mucopolysaccharidosis, Type Iva
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Prominent sternum, Flaring o... OMIM:253000
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology ORPHA:2759
Dworschak-Punetha Neurodevelopmental Syndrome
Depressed nasal bridge, Agenesis of corpus callosum, Dysplastic corpus callosum, Peripheral axona... OMIM:619955
Cockayne Syndrome A
Irregular menstruation, Optic atrophy, Cerebral atrophy, Peripheral dysmyelination, Hypogonadism,... OMIM:216400
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy ORPHA:101082
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Ileal atresia, Secondary microcephaly, Streak ovary, Cryptorchidism, Aplasi... OMIM:618820
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Rib fusion, Missing ribs, Short ... OMIM:271520
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Sprengel anomaly, Abnormal rib morphology, ... ORPHA:392
Acro-Renal-Mandibular Syndrome
Uterus didelphys, Aplasia/Hypoplasia of the tongue, Abnormality of the sense of smell, Tracheoeso... ORPHA:958
Peroxisome Biogenesis Disorder 9B
Anosmia, Total anosmia OMIM:614879
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Wide nasal bridge, Anteriorly placed anus, Peripheral demyelination, Anteverted nares, Simplified... OMIM:220111
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Oral-pharyngeal dysphagia, Facial diplegia, Hypoplasia of the corpus callosum, Dec... ORPHA:254930
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Depressed nasal bridge, Focal polymicrogyria, Bulbous nose, Cryptorchidism, Submucous cleft hard ... OMIM:619103
Aural Atresia, Congenital
Hyposmia OMIM:607842
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Hypospadias OMIM:619718
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Lissenceph... OMIM:614833
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Short thorax, Spinal canal stenosis, Short neck, Hyperlordosis, ... ORPHA:582
Refsum Disease
Anosmia, Splenomegaly ORPHA:773
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Leukodystrophy, Ankyloglossia, Peripheral demyelination, Hepatic steatosis, Jaundice, High palate... OMIM:619475
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal clavicle morphology, Abnormal form of the vertebral bodi... ORPHA:628
Bardet-Biedl Syndrome
Inflammation of the large intestine, Hydrometrocolpos, Type II diabetes mellitus, Cryptorchidism,... ORPHA:110
Parkinson Disease 8, Autosomal Dominant
Lewy bodies, Hyposmia, Substantia nigra gliosis OMIM:607060
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anteriorly placed anus, Supernumerary nipple, Cryptorchidism, Hypoplasia of the corpus callosum, ... OMIM:618653
Spinocerebellar Ataxia 25
Abnormal cerebral white matter morphology, Decreased number of peripheral myelinated nerve fibers OMIM:608703
Musk, Inability To Smell
Anosmia OMIM:254150
Bohring-Opitz Syndrome
Wide nasal bridge, Depressed nasal bridge, Gastroesophageal reflux, Supernumerary nipple, Intesti... OMIM:605039
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Giant Axonal Neuropathy 1, Autosomal Recessive
Sensory axonal neuropathy, Lateral ventricle dilatation, Motor axonal neuropathy, Decreased numbe... OMIM:256850
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Cerebral cortical atrophy, Eye of the tiger anomaly of globus pallidus, Peripheral... ORPHA:171629
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Abnormal rib morphology ORPHA:93351
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Young-Onset Parkinson Disease
Hyposmia, Male sexual dysfunction, Female sexual dysfunction ORPHA:2828
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Demyelin... ORPHA:99948
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Velopharyngeal insufficiency, Endometriosis, Dysplastic corpus callosum, Anal atresia, Micropenis... ORPHA:363444
Cockayne Syndrome B
Optic atrophy, Cerebral atrophy, Peripheral dysmyelination, Basal ganglia calcification, Prominen... OMIM:133540
Achondrogenesis, Type Ia
Broad clavicles, Hypoplastic scapulae, Narrow chest, Unossified vertebral bodies, Hypoplastic sac... OMIM:200600
Waardenburg Syndrome, Type 4C
Anosmia, Lacrimal gland hypoplasia, Hypogonadism, Cryptorchidism, Aganglionic megacolon OMIM:613266
Campomelic Dysplasia
Depressed nasal bridge, Abnormality of the sense of smell, Male pseudohermaphroditism, Ambiguous ... ORPHA:140
Bosma Arhinia Microphthalmia Syndrome
Choanal atresia, Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora... OMIM:603457
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Kufor-Rakeb Syndrome
Anosmia, Dysphagia, Hyposmia OMIM:606693
Leukodystrophy, Hypomyelinating, 5
Cerebral white matter atrophy, CNS hypomyelination, Onion bulb formation, Leukodystrophy OMIM:610532
Microcephaly 26, Primary, Autosomal Dominant
Wide nasal bridge, Prominent nasal bridge, Protruding tongue, Hypoplasia of the corpus callosum, ... OMIM:619179
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Scoliosis, Abnormal rib morphology ORPHA:2319
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Neuropathy, Hereditary Sensory, Type Ie
Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers OMIM:614116
Leopard Syndrome 1
Depressed nasal ridge, Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ... OMIM:151100
Charge Syndrome
Abnormal cranial nerve morphology, Cryptorchidism, Aqueductal stenosis, Holoprosencephaly, Dyspha... ORPHA:138
Icf Syndrome
Abnormality of chromosome stability ORPHA:2268
Cerebrofacioarticular Syndrome
Wide nasal bridge, Anal stenosis, Anteriorly placed anus, Bilateral choanal atresia/stenosis, Abs... ORPHA:314679
Autosomal Recessive Cutis Laxa Type 2A
Secondary microcephaly, Prominent nasal bridge, Dysplastic corpus callosum, Primary microcephaly,... ORPHA:357058
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Short neck, Kyphosis, Abnormal rib morphology ORPHA:3082
Indifference To Pain, Congenital, Autosomal Recessive
Anosmia, Hyposmia OMIM:243000
Lig4 Syndrome
Abnormality of chromosome stability ORPHA:99812
Hereditary Late-Onset Parkinson Disease
Cerebral cortical atrophy, Lewy bodies, Gliosis, Dysphagia, Hyposmia ORPHA:411602
Gracile Bone Dysplasia
Ankyloglossia, Hydrocephalus, Micropenis, Asplenia, Hypoplastic spleen OMIM:602361
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Prominent nasal bridge, Anisocytosis, Dysplastic corpus callosum, Microcephaly, Hepatomegaly OMIM:604273
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers ORPHA:90103
Cooper-Jabs Syndrome
Missing ribs, Scoliosis, Abnormal rib morphology ORPHA:1488
Spastic Ataxia 5, Autosomal Recessive
Dysphagia, Onion bulb formation OMIM:614487
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Vertebral compression fracture, Biconcave vertebral bodies OMIM:617952
Wilson Disease
Portal fibrosis, Mixed demyelinating and axonal polyneuropathy, Hepatic steatosis, Splenomegaly, ... OMIM:277900
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents OMIM:617244
Cole-Carpenter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:2050
Bloom Syndrome
Chromosome breakage, Azoospermia, Abnormality of chromosome stability OMIM:210900
Refsum Disease, Classic
Anosmia OMIM:266500
Oculoskeletodental Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad columella, Thick nasal alae, Focal white matter ... ORPHA:557003
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Peripheral axonal neuropathy, Axonal degeneration, Decreased number of peripheral myelinated nerv... OMIM:615490
Hypophosphatasia
Narrow chest, Abnormal rib morphology ORPHA:436
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Focal T2 hyperintense basal ganglia lesion, Demyelinating peripheral neuropathy, H... ORPHA:255210
Melnick-Needles Syndrome
Anisospondyly, Narrow chest, Short thorax, Short clavicles, Abnormal rib morphology, Scoliosis ORPHA:2484
Superficial Siderosis
Abnormal corpus callosum morphology, Anosmia, Partial anosmia, Abnormality of the vestibulocochle... ORPHA:247245
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Lateral ventricle dilatation, Bilateral cryptorchidism, Periventricular cysts, Bulbous nose, Dysp... ORPHA:544488
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Cholestasis, Hypoplasia of the corpus callosum, Agenesis of corpus callosum,... OMIM:614924
Prune Belly Syndrome
Pectus excavatum, Scoliosis, Vertebral segmentation defect, Abnormal rib morphology ORPHA:2970
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Missing ribs, Short neck, A... ORPHA:1834
Charge Syndrome
Lymphopenia, Cryptorchidism, Hypoparathyroidism, Anal atresia, Holoprosencephaly, Dysphagia, Duod... OMIM:214800
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability OMIM:300514
Amoebiasis Due To Free-Living Amoebae
Increased red blood cell count, Abnormal cerebral cortex morphology, Abnormal basal ganglia morph... ORPHA:68
Combined Oxidative Phosphorylation Deficiency 53
CNS hypomyelination, Secondary microcephaly, Dysplastic corpus callosum, Hypochromic microcytic a... OMIM:619423
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology ORPHA:3242
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology ORPHA:2772
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents OMIM:620133
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Phaver Syndrome
Butterfly vertebrae, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:2876
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Sensory axonal neuropathy, Mixed demyelinating and axonal polyneuropathy, Periventricular leukoma... ORPHA:466768
Bone Marrow Failure Syndrome 3
Chromosome breakage OMIM:617052
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Gastrointestinal dysmotility, Hyposmia OMIM:616488
Stormorken Syndrome
Epistaxis, Howell-Jolly bodies, Prominent nose, Thrombocytopenia, Anemia, Asplenia, Hypoplastic s... OMIM:185070
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripheral my... ORPHA:320406
Occipital Horn Syndrome
High, narrow palate, Gastroesophageal reflux, Hepatitis, Cholestasis, Cerebral calcification, Eso... ORPHA:198
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Hyperlordosis, Abnormal rib morphology ORPHA:3068
Fanconi Anemia, Complementation Group P
Chromosomal breakage induced by crosslinking agents OMIM:613951
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dyspl... ORPHA:488627
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Microcephaly, High palate OMIM:618010
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Periventricular heterotopia, Sensory axonal neuropathy, Peripheral h... OMIM:618733
Lenz-Majewski Hyperostotic Dwarfism
Choanal atresia, Cerebral cortical atrophy, Microglossia, Anteriorly placed anus, Cryptorchidism,... OMIM:151050
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Basal ganglia calcification, Prominent nose, Cerebral calcification, Dysplastic co... OMIM:617281
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents OMIM:614083
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axo... OMIM:208920
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology ORPHA:2145
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Hypoplasia of the corpus callosum, Focal white matter lesions, Optic neuropathy, O... ORPHA:320375
Microphthalmia, Syndromic 9
Wide nasal bridge, Multilobulated spleen, Cryptorchidism, Hypoplasia of the uterus, Bicornuate ut... OMIM:601186
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased number of large peripheral myelinated nerve fibers, Hypermyelinated retinal nerve fiber... OMIM:270550
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:600901
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers OMIM:162400
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Trisomy 13
Narrow chest, Scoliosis, Kyphosis, Abnormal rib morphology ORPHA:3378
Campomelia, Cumming Type
Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:1318
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:227650
East Syndrome
Hyperaldosteronism, Peripheral axonal neuropathy, Increased circulating renin level, Peripheral h... ORPHA:199343
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Abnormal form of the vertebral bodies, Missing ribs, Abnormal rib morphology, ... ORPHA:2769
Poland Syndrome
Asymmetry of the thorax, Pectus carinatum, Abnormal sternum morphology, Aplasia/Hypoplasia of the... ORPHA:2911
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability ORPHA:175
Alagille Syndrome
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Butterfly vertebral arch, A... ORPHA:52
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis, Hepatic steatosis, Decreased number... OMIM:256810
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Gastroesophageal reflux, Decreased number of peripheral myelinated nerve fibers OMIM:201300
Cleidocranial Dysplasia
Narrow chest, Hypoplastic scapulae, Down-sloping shoulders, Short clavicles, Abnormal rib morphol... ORPHA:1452
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents OMIM:610832
Melanoma, Cutaneous Malignant, Susceptibility To, 9
Melanoma OMIM:615134
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:227645
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents OMIM:603467
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoparathyroidism, Hypoplastic splee... ORPHA:699
Waardenburg Syndrome, Type 2E
Anosmia, Cerebral hypomyelination OMIM:611584
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3301
Pyknoachondrogenesis
Unossified sacrum, Horizontal ribs, Short ribs, Poorly ossified vertebrae, Short thorax, Enlarged... ORPHA:3003
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Mixed demyelinating and axonal polyneuropathy, Decreased number... ORPHA:101085
Cenani-Lenz Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:3258
Zttk Syndrome
Wide nasal bridge, Optic atrophy, Depressed nasal bridge, Bifid uvula, Absent gallbladder, Perive... OMIM:617140
Mosaic Trisomy 8
Narrow chest, Vertebral segmentation defect, Short neck, Abnormal rib morphology, Scoliosis ORPHA:96061
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Abnormal scapula morphology, Abnormal rib morphology ORPHA:93317
Lacrimoauriculodentodigital Syndrome
Choanal atresia, Anosmia, Bifid uvula, Xerostomia, Abnormal salivary gland morphology, Cryptorchi... ORPHA:2363
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Wide nose, Decreased number of peripheral myelinated nerve fibers ORPHA:477817
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Wide nasal bridge, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly, H... OMIM:618569
Radio-Renal Syndrome
Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:3015
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:227646
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microglossia, Underdeveloped nasal alae, Bulbous nose, Short columella, Prominent nasal bridge, D... ORPHA:364577
Fanconi Anemia
Azoospermia, Abnormality of chromosome stability ORPHA:84
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Gastroesophageal reflux, Prominent nose, Narrow nasal bridge, Cryptorchidism... OMIM:300967
Vacterl/Vater Association
Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal intervertebral disk morpholog... ORPHA:887
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lateral ventricle dilatation, Absent gallbladder, Hypoplasia of the corpus callosum, Dysphagia, S... ORPHA:500150
Hurler Syndrome
Abnormal vertebral morphology, Abnormal clavicle morphology, Spinal canal stenosis, Short neck, A... ORPHA:93473
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Scoliosis, Kyphosis, Abnormal rib morphology ORPHA:2215
White-Kernohan Syndrome
Depressed nasal bridge, Gastroesophageal reflux, Underdeveloped nasal alae, Anteriorly placed anu... OMIM:619426
Witteveen-Kolk Syndrome
Flared nostrils, Male urethral meatus stenosis, Type II diabetes mellitus, Hypoplasia of the corp... OMIM:613406
Nijmegen Breakage Syndrome
Abnormality of chromosome stability ORPHA:647
Oculocerebrocutaneous Syndrome
Missing ribs, Abnormal rib morphology ORPHA:1647
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Antley-Bixler Syndrome
Narrow chest, Abnormal rib morphology ORPHA:83
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
High, narrow palate, Gastroesophageal reflux, Bilateral cryptorchidism, Supernumerary nipple, Pse... ORPHA:466791
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Choreoacanthocytosis
Cerebral cortical atrophy, Lateral ventricle dilatation, Small basal ganglia, Acanthocytosis, Spl... ORPHA:2388
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Facial paralysis, Decreased number of peripheral myelinated nerve fibers, Demyelin... ORPHA:99949
Trisomy 1Q
Abnormal rib morphology, Short thorax ORPHA:261344
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Chronic axonal neuropathy, Increased circulating renin level, Hyperaldosteronism, Peripheral hypo... OMIM:612780
Autosomal Dominant Popliteal Pterygium Syndrome
Scoliosis, Abnormal rib morphology ORPHA:1300
Schwartz-Jampel Syndrome
Platyspondyly, Pectus carinatum, Shoulder flexion contracture, Abnormally straight spine, Short n... ORPHA:800
Monosomy 9Q22.3
Abnormality of the vertebral column, Short neck, Abnormal rib morphology, Pectus excavatum, Kyphosis ORPHA:77301
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy ORPHA:2821
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal lumbar spine morphology, Abnormality of the cervical spine... ORPHA:249
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Tongue atrophy, Myelin outfoldings ORPHA:99956
Otopalatodigital Syndrome Type 2
Abnormal vertebral segmentation and fusion, Narrow chest, Scoliosis, Abnormal rib morphology ORPHA:90652
Osteogenesis Imperfecta
Thin ribs, Pectus carinatum, Narrow chest, Cervical kyphosis, Thoracic hypoplasia, Abnormal form ... ORPHA:666
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Gastroesophageal reflux OMIM:223900
Camptodactyly Syndrome, Guadalajara Type 3
Spina bifida occulta, Short neck, Abnormal rib morphology ORPHA:488434
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers OMIM:256800
Mucopolysaccharidosis Type 3
Scoliosis, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Abnormal rib morp... ORPHA:581
Dextrocardia
Abnormal rib morphology ORPHA:1666
Myhre Syndrome
Platyspondyly, Abnormal rib morphology ORPHA:2588
Monosomy 9P
Short neck, Scoliosis, Abnormality of the vertebral column, Abnormal rib morphology ORPHA:261112
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Narrow chest, Hypoplastic scapulae, Abnormal rib morphology, Scoli... ORPHA:95699
Simpson-Golabi-Behmel Syndrome
Vertebral segmentation defect, Short neck, Vertebral fusion, Abnormal rib morphology, Pectus exca... ORPHA:373
Ulbright-Hodes Syndrome
Thin ribs, Short ribs, Short sternum, Short neck, Ovoid thoracolumbar vertebrae, Abnormal rib mor... ORPHA:3404
Smith-Lemli-Opitz Syndrome
Abnormal form of the vertebral bodies, Short neck, Abnormal rib morphology, Scoliosis, Kyphosis ORPHA:818
Vater/Vacterl Association
Abnormal vertebral morphology, Scoliosis, Abnormal sternum morphology, Abnormal rib morphology OMIM:192350
Trisomy 18
Abnormal rib morphology ORPHA:3380
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology ORPHA:2907
Alagille Syndrome 1
Butterfly vertebral arch, Hemivertebrae, Abnormal rib morphology OMIM:118450
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:991
Oculocerebrorenal Syndrome Of Lowe
Platyspondyly, Scoliosis, Kyphosis, Abnormal rib morphology ORPHA:534
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Abnormal rib morphology ORPHA:2554
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Abnormal rib morphology ORPHA:667
Kindler Epidermolysis Bullosa
Abnormal rib morphology ORPHA:2908
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Dyskeratosis Congenita
Bone marrow hypocellularity, Oral leukoplakia, Abnormal morphology of female internal genitalia, ... ORPHA:1775
Fraser Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:2052
Townes-Brocks Syndrome
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:857
Familial Melanoma
Neoplasm of the stomach, Neoplasm of the pancreas, Abnormality of the lymphatic system ORPHA:618
Dyskeratosis Congenita, Autosomal Dominant 2
Chronic diarrhea, Failure to thrive OMIM:613989
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Bone marrow hypocellularity, Gastroesophageal reflux, Aplastic anemia, Pancytopenia, Cirrhosis, M... OMIM:614742
Hoyeraal-Hreidarsson Syndrome
Failure to thrive ORPHA:3322
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Epistaxis, Pancytopenia, Reticulocytopenia, Neutropenia, Thrombocyto... ORPHA:88
Idiopathic Pulmonary Fibrosis
Gastroesophageal reflux ORPHA:2032

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tert

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tert.

No publications found that use IMPC mice or data for Tert.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Terttm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Terttm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Terttm213181(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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