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 associated to Tert by orthology or direct annotation.

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
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Chondrocalcinosis Due To Apatite Crystal Deposition
Intervertebral disk calcification, Costal cartilage calcification, Costochondral pain OMIM:118610
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... OMIM:184400
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphosis, Scoliosis, Hypoplasia of the odontoid proces... OMIM:609813
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Dysphagia, Testicular atrophy, Decreased fertility OMIM:313200
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... OMIM:122600
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Hyp... OMIM:308750
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
High palate, Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensit... OMIM:308700
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Hypogonadotropic hypogonadism, Cirrhosis... OMIM:235200
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... OMIM:613686
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Hypergonadotropic hypogonadism... OMIM:604168
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:607734
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
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
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Scoliosis, Pectus carinatum ORPHA:3268
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, Gliosis, Cerebral atrophy, Basal ganglia calcification, Hypoplasia of the co... OMIM:221770
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased sensory nerve conduction velocity, Decreased nerve conduction v... ORPHA:206594
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Decreased number of peripheral myelinated nerve fibers, Primary a... OMIM:607080
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Gray matter heterotopia, Polymicrogyria, Hypoplasia of... OMIM:604213
Myotonic Dystrophy 1
Cholelithiasis, Facial diplegia, Testicular atrophy, Cerebral atrophy, Hypogonadism, Dysphagia OMIM:160900
Becker Nevus Syndrome
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis OMIM:604919
Endosteal Hyperostosis, Worth Type
Abnormal rib morphology, Sclerotic vertebral body, Clavicular sclerosis, Abnormal form of the ver... ORPHA:2790
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Hyposmia, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary ame... OMIM:610628
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism, Anosmia OMIM:616030
Leukoencephalopathy With Dystonia And Motor Neuropathy
Leukoencephalopathy, Hyposmia, Hypergonadotropic hypogonadism, Abnormal motor neuron morphology, ... OMIM:613724
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Anteverted nares, Testicular atrophy, Intestinal malrotation OMIM:601163
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... OMIM:214400
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:1354
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... OMIM:118200
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... OMIM:606482
Bardet-Biedl Syndrome 19
Hypogonadism, External genital hypoplasia, Hyposmia OMIM:615996
Kyphomelic Dysplasia
Narrow chest, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebral bodies, Short t... ORPHA:1801
Hypertrophic Neuropathy Of Dejerine-Sottas
Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental peripheral demyelination/... OMIM:145900
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
High palate, Small pituitary gland, Micropenis, Hyposmia, Hypogonadotropic hypogonadism, Primary ... OMIM:612702
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... ORPHA:1797
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Abnormal periventricular white matter morphology, CNS demyel... OMIM:249900
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Azoospermia, Testicular microlithiasis, Micropenis, A... OMIM:228300
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Segmental peripheral demy... OMIM:606483
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Cholangiocarcinoma, Decreased serum testosterone con... ORPHA:465508
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:118220
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cleft palate, Hyposmia, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Agenesis o... OMIM:147950
Roussy-Levy Hereditary Areflexic Dystasia
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:180800
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Symmetrical progressive periphe... ORPHA:208981
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Cleft palate, Micropenis, Hyposmia, Hypogonadotropic hypogonadism, Decreased testicular size, Ano... OMIM:614838
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends ORPHA:168555
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601098
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Cerebral calcification, Cirrhosis, Pancytopenia, Bone marrow hypocellularity,... OMIM:613987
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:614895
Wolfram Syndrome 1
Megaloblastic anemia, Testicular atrophy, Cerebral atrophy, Thrombocytopenia, Hypothyroidism, Opt... OMIM:222300
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Anosmia, Decreased testicular size OMIM:614858
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... OMIM:118210
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Scoliosis, Bell-sha... OMIM:187760
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Cerebral atrophy, Hypoplasia of the corpus callosum, Dysphagia, Periph... OMIM:617672
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... ORPHA:2932
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Hyposmia, Decreased circulating follicle ... OMIM:614897
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Impotence, Autonomic erectile dysfunction, Gliosis, Pseudobulbar paralysis, Leukodystrophy, Corpu... OMIM:169500
Krabbe Disease
Hydrocephalus, Decreased nerve conduction velocity, Autoimmune thrombocytopenia, Optic atrophy, D... OMIM:245200
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Aplasia/Hypoplasia involving the nose, Cleft palate, Abnormality of the sense of sme... ORPHA:1135
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... OMIM:608340
Null Syndrome
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Optic atrophy, Abnormal... ORPHA:280234
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Decreased serum testosterone concentration, Hypoplasia of the ovary, Mi... OMIM:614841
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination OMIM:162600
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:165200
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
N Syndrome
Abnormality of chromosome stability OMIM:310465
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination OMIM:608236
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Impaired oropharyngeal swallow response, Acute demyelinating polyneuropathy ORPHA:98916
Mismatch Repair Cancer Syndrome 4
Adenomatous colonic polyposis, Gray matter heterotopia, Astrocytoma, Colon cancer, Glioblastoma m... OMIM:619101
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Cleft palate OMIM:612370
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy OMIM:182815
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Microcephaly, Short nose, Hypogonadism, Short nasal septum, Anosmia OMIM:302950
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs OMIM:617405
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft palate, Micropenis, Hyposmia, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchi... OMIM:244200
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Gliosis, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, CNS demyelina... OMIM:220111
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Charcot-Marie-Tooth Disease Type 4G
Motor conduction block, Demyelinating peripheral neuropathy, Decreased motor nerve conduction vel... ORPHA:99953
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... OMIM:607706
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Peripher... ORPHA:101097
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Onion bulb formation, Peripheral axonal neuropathy, Hypoplasia of the corpus callosum OMIM:615035
Isolated Klippel-Feil Syndrome
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... ORPHA:2345
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Aarskog-Scott Syndrome
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Cleft palate, Ele... OMIM:305400
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy OMIM:311070
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Dysphagia, Axonal degeneration/regeneration, Peripheral demyelination OMIM:607736
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Cerebral dysmyelination, Dysmyelinating leukodystrophy, Ileu... OMIM:609136
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Gorlin Syndrome
Hydrocephalus, Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Cerebral calcifi... ORPHA:377
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Sensory axonal neuropathy... OMIM:157640
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip... OMIM:604563
Pelizaeus-Merzbacher Disease
Cerebral dysmyelination, Microcephaly, Sudanophilic leukodystrophy, Optic atrophy, Reduction of o... OMIM:312080
Metatropic Dysplasia
Narrow chest, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Long thorax, Abnormal r... ORPHA:2635
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Abnormal cranial nerve morpholog... OMIM:605253
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... OMIM:609260
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Anosmia OMIM:614839
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Absence of pubertal development, Anosmia, Hypogonadism OMIM:615267
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... OMIM:609311
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia, Delayed puberty, Hypogonadism OMIM:615270
Huntington Disease
Cerebral atrophy, Abnormality of the sense of smell, Abnormal cerebral white matter morphology, D... ORPHA:399
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, 4-layered lissencephaly, Hypoplasia of the corpus callosum, Wide nose, Dy... ORPHA:89844
Galloway-Mowat Syndrome 5
Microcephaly, Pachygyria, Peripheral demyelination OMIM:617731
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Depressed nasal bridge, Hypogonadotropic hypogonadism, Anosmia OMIM:113480
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Hypoplasia of the corpus callosum ORPHA:2386
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... ORPHA:500166
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:605285
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Delayed puberty, Hyposmia OMIM:615271
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity OMIM:162500
Osteogenesis Imperfecta, Type Ix
Kyphosis, Pectus excavatum, Platyspondyly, Scoliosis, Pectus carinatum, Beaded ribs OMIM:259440
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation OMIM:618279
Hydrolethalus
Hydrocephalus, Cleft palate, Abnormality of the sense of smell, Anencephaly, Arrhinencephaly, Age... ORPHA:2189
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Adult Krabbe Disease
Morphological abnormality of the corticospinal tract, Morphological abnormality of the pyramidal ... ORPHA:206448
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre... OMIM:605588
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Johnson Neuroectodermal Syndrome
Cleft palate, Micropenis, Hypogonadotropic hypogonadism, Microcephaly, Patent ductus arteriosus, ... OMIM:147770
Mitochondrial Neurogastrointestinal Encephalomyopathy
Leukoencephalopathy, Decreased number of large peripheral myelinated nerve fibers, Demyelinating ... ORPHA:298
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal astrocyte morphology, CNS demyelination, A... ORPHA:217260
Multiple Sulfatase Deficiency
Hydrocephalus, Hepatomegaly, Cerebral atrophy, Splenomegaly, Abnormal periventricular white matte... OMIM:272200
Charcot-Marie-Tooth Disease, Type 4K
Peripheral demyelination, Axonal loss OMIM:616684
Charcot-Marie-Tooth Disease, Type 4J
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... OMIM:611228
8P11.2 Deletion Syndrome
High palate, Hypoplasia of penis, Spherocytosis, Splenomegaly, Depressed nasal bridge, Hypogonado... ORPHA:251066
Tangier Disease
Facial diplegia, Hepatomegaly, Splenomegaly, Peripheral axonal neuropathy, Peripheral demyelination OMIM:205400
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Short neck, Vertebral segmentation defect ORPHA:2578
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Motor axonal neuropathy, Microcephaly, Dysplastic corpus callosum OMIM:618276
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, De... OMIM:618184
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Dermoid Cysts, Familial Frontonasal
Papilledema, Nasal congestion, Dysphagia, Deviated nasal septum, Anosmia, Wide nasal bridge OMIM:600679
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Cleft palate, Hyposmia, Micropenis, Hypogonadotropic hypogonadi... ORPHA:478
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination OMIM:258650
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:610100
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy ORPHA:497764
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Cleft palate, Absent septum pellucidum, Optic nerve hypoplasia, Abnormality ... ORPHA:3157
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Lateral clavicle hook OMIM:615633
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Poland Syndrome
Sprengel anomaly, Rib fusion, Hemivertebrae, Short ribs OMIM:173800
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Peripheral axonal atrophy, Decreased number of peripheral myelinated nerve fibers, Decreased moto... OMIM:600882
Abetalipoproteinemia
Fat malabsorption, Acanthocytosis, Peripheral demyelination, CNS demyelination OMIM:200100
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Short neck, Hyperlordosis, Abnormal rib... ORPHA:2522
Lesch-Nyhan Syndrome
Dysphagia, Testicular atrophy, Vomiting OMIM:300322
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Axonal degeneration, Hyposmia, Peripheral axonal degeneration, Decreased number of peripheral mye... OMIM:608720
Johnson Neuroectodermal Syndrome
Bulbous nose, Cleft palate, Microcephaly, Choanal atresia, Hypogonadism, Facial palsy, Anosmia ORPHA:2316
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Congenital Hypothyroidism
Abnormality of the thyroid gland, Prolonged neonatal jaundice, Depressed nasal ridge, Macroglossi... ORPHA:442
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum OMIM:602196
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Facial palsy OMIM:601382
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination ORPHA:71211
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Communicating hydrocephalus, Chronic rhinitis, Recurrent bronchitis, Male infert... OMIM:244400
Becker Nevus Syndrome
Kyphosis, Rib fusion, Pectus excavatum, Scoliosis, Pectus carinatum, Spina bifida occulta, Supern... ORPHA:64755
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial diplegia, High palate, Decreased sensory nerve conduction velocity, Onion bulb formation, ... OMIM:218000
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Degeneration of the lateral cortico... OMIM:604360
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Motor Neuropathy, Peripheral, With Dysautonomia
Achalasia, Decreased nerve conduction velocity, Peripheral demyelination OMIM:252320
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Hypergonadotropic hypogonadism, Periventricular nodular heterotopia, ... OMIM:619737
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Charcot-Marie-Tooth Disease, Type 4D
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased nerve conductio... OMIM:601455
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased numb... ORPHA:98856
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Achalasia, Decreased sensory nerve conduction velocity, Peripheral demyelination OMIM:609033
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypoplasia of penis, Bifid scrotum, Abnormality of the nares, Hypogonadotropic hypogonadism, Shor... ORPHA:1295
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Short neck, Abnormal form of the vertebral bodies ORPHA:2234
Metatropic Dysplasia
Narrow chest, Kyphosis, Kyphoscoliosis, Relatively short spine, Short ribs, Platyspondyly, Scolio... OMIM:156530
Mucolipidosis Iv
Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly, Optic atrophy, Achlorhydria, H... OMIM:252650
X-Linked Intellectual Disability, Snyder Type
High palate, Bulbous nose, Testicular atrophy, Cleft palate, Abnormality of the Leydig cells, Hyp... ORPHA:3063
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Glio... OMIM:604484
Molybdenum Cofactor Deficiency, Complementation Group B
Gliosis, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Short nose, Periphera... OMIM:252160
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Cleft palate, Depressed nasal ridge, Anterior hypopituitarism, Ambigu... OMIM:601016
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia, Delayed puberty OMIM:274190
Glycosylphosphatidylinositol Biosynthesis Defect 17
High palate, Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Steinert Myotonic Dystrophy
Cholelithiasis, Facial diplegia, Testicular atrophy, Impotence, Hyperinsulinemia, Hypergonadotrop... ORPHA:273
Hyperparathyroidism, Transient Neonatal
Narrow chest, Thin ribs, Short ribs OMIM:618188
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... ORPHA:250972
Axial Spondylometaphyseal Dysplasia
Narrow chest, Thoracic scoliosis, Short ribs, Platyspondyly, Scoliosis, Aplasia/Hypoplasia of the... ORPHA:168549
Metachromatic Leukodystrophy
Gallbladder dysfunction, Decreased nerve conduction velocity, Cholecystitis, Optic atrophy, Abnor... OMIM:250100
Holoprosencephaly
Hydrocephalus, Depressed nasal ridge, Depressed nasal tip, Optic atrophy, Median cleft lip and pa... ORPHA:2162
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Axonal degeneration, Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral ... OMIM:302800
Ichthyosis And Male Hypogonadism
Hypogonadotropic hypogonadism, Polyneuritis, Hyperchromic macrocytic anemia, Gonadotropin deficie... OMIM:308200
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Thin ribs, Short ribs, Disc-like vertebral bodies, Short neck, Severe platyspondyly OMIM:151210
Klippel-Feil Syndrome 1, Autosomal Dominant
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... OMIM:118100
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Platyspondyly, Short neck, Abnormal rib morphology ORPHA:93267
Lissencephaly, X-Linked, 2
High palate, Gliosis, Micropenis, Ambiguous genitalia, Lissencephaly, Decreased testicular size, ... OMIM:300215
Jeune Syndrome
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Abnormal rib morphology,... ORPHA:474
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Decreased response to growth hormone stimulation test, Holoprose... OMIM:147250
Peho Syndrome
Hypoplasia of the corpus callosum, Polymicrogyria, Optic atrophy, Short nose, Peripheral dysmyeli... OMIM:260565
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Bardet-Biedl Syndrome 17
Hypogonadism, Anosmia, Micropenis, Hyposmia OMIM:615994
Immunodeficiency 54
Chromosome breakage OMIM:609981
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Rib fusion, Kyphosis, Short neck, Scoliosis, Abnormal form of the ... ORPHA:2311
Kallmann Syndrome-Heart Disease Syndrome
Cleft palate, Micropenis, Hypogonadotropic hypogonadism, Midgut malrotation, Decreased testicular... ORPHA:2326
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Dysplastic corpus callosum, Hepatomegaly, Cleft palate, Macrovesicular hepat... OMIM:614924
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Mirage Syndrome
Adrenal insufficiency, Hydrocephalus, Lymphopenia, Gastroesophageal reflux, Hypergonadotropic hyp... OMIM:617053
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Abnormality of the sense of smell, Glossoptosis, Microcephaly, Submucous cle... ORPHA:3201
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Anosmia, Hyposmia OMIM:617885
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Ataxia-Telangiectasia
Abnormality of chromosome stability ORPHA:100
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Molybdenum Cofactor Deficiency, Complementation Group A
Gliosis, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Short nose, Periphera... OMIM:252150
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607831
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short neck, Scoliosis, Biconcave vertebral bodies, Broad ribs OMIM:610319
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Microcephaly, Decreased nerve conduction velocity OMIM:615284
Hyperostosis Cranialis Interna
Optic atrophy, Facial palsy, Anosmia, Hyposmia OMIM:144755
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Mosaic Trisomy 14
Narrow chest, Short neck, Abnormal rib morphology ORPHA:1703
8Q21.11 Microdeletion Syndrome
High palate, Hypoplasia of penis, Abnormality of the sense of smell, Wide nose, Cryptorchidism, U... ORPHA:284160
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Kapur-Toriello Syndrome
Bulbous nose, Dysplastic corpus callosum, Hypoplasia of penis, Intestinal malrotation, Polymicrog... ORPHA:2328
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Hemivertebrae, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib m... ORPHA:2180
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Achondrogenesis Type 1B
Narrow chest, Short neck, Short thorax, Abnormal rib morphology ORPHA:93298
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly, ... OMIM:609616
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Axonal degeneration/... OMIM:601152
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
External genital hypoplasia, Hypoplasia of penis, Hyposmia, Cleft palate, Bifid uvula, Hypogonadi... ORPHA:2250
Even-Plus Syndrome
High palate, Anal atresia, Dysplastic corpus callosum, Depressed nasal ridge, Bifid nasal tip, Sh... OMIM:616854
Mesomelic Dysplasia, Kantaputra Type
Abnormal rib morphology, Vertebral segmentation defect ORPHA:1836
Marcus-Gunn Syndrome
Abnormality of the sense of smell, Abnormal fifth cranial nerve morphology, Choanal atresia, Clef... ORPHA:91412
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Bulbous nose, Dysplastic corpus callosum, Small basal ganglia, Cerebral atrophy, Macroglossia, Pe... OMIM:616900
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Abnormal cranial nerve morphology, Anosmia ORPHA:2057
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral dysmyelination ORPHA:101082
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Leukoencephalopathy, Hydrocephalus, Megaloblastic anemia, Severe demyelination of the white matte... ORPHA:79282
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter atrophy,... ORPHA:464282
X-Linked Lissencephaly With Abnormal Genitalia
Exocrine pancreatic insufficiency, Malabsorption, Aganglionic megacolon, Cryptorchidism, Hypoplas... ORPHA:452
Autosomal Spastic Paraplegia Type 58
Abnormal cerebral white matter morphology, Microcephaly, Cerebral atrophy, Peripheral demyelination ORPHA:397946
White Forelock With Malformations
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology ORPHA:2475
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Broad ribs... OMIM:619698
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Dysplastic corpus callosum, Hepatomegaly, Micropenis, Peripheral axonal neuropa... OMIM:618810
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Axonal loss OMIM:614455
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Lethal Congenital Contracture Syndrome Type 1
Abnormal rib morphology, Short neck, Abnormal form of the vertebral bodies ORPHA:1486
Moebius Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Cleft palate, Abnormality of the sense of smell, H... ORPHA:570
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Frontalis muscle weakness, Anosmia, Wide nasal bridge OMIM:210745
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Fibrochondrogenesis
Narrow chest, Short ribs, Short neck, Abnormal form of the vertebral bodies, Bell-shaped thorax, ... ORPHA:2021
Grant Syndrome
Sprengel anomaly, Narrow chest, Abnormality of the glenoid fossa, Abnormal rib morphology ORPHA:2097
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
High palate, Dysplastic corpus callosum, Depressed nasal bridge, Microcephaly, Dysphagia, Antever... OMIM:620001
Meningioma
Hydrocephalus, Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituita... ORPHA:2495
Cockayne Syndrome A
Thymic hormone decreased, Abnormal peripheral myelination, Slender nose, Normal pressure hydrocep... OMIM:216400
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Uterus didelphys, Polymicrogyria, Short nose, Clitoral hypertrophy, Chordee, Gray m... OMIM:618820
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Abnormality of peripheral nerve conduction, Decreased number of large peripheral myelinated nerve... ORPHA:90103
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs ORPHA:2759
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Depressed nasal bridge, Microcephaly, Peripheral axonal neuropathy, C... OMIM:619955
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Optic nerve hypoplasia, Microcephaly, Polymicrogyria, Lissencephaly, ... OMIM:614833
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Vertebral segmentation defect, Scoliosis, Abnormal rib morphology, ... ORPHA:1988
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Thin ribs, Short neck, Platyspondyly, Scoliosis OMIM:618395
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... ORPHA:99948
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... OMIM:271520
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Bulbous nose, Dysplastic corpus callosum, Hypospadias, Depressed nasal bridge, Microcephaly, Part... OMIM:619103
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Anosmia, Hyposmia OMIM:243000
Holt-Oram Syndrome
Sprengel anomaly, Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Down-sloping shoulder... ORPHA:392
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Refsum Disease
Anosmia, Splenomegaly ORPHA:773
Leukodystrophy, Hypomyelinating, 5
Leukodystrophy, Decreased motor nerve conduction velocity, Onion bulb formation, Cerebral white m... OMIM:610532
Acro-Renal-Mandibular Syndrome
High palate, Bicornuate uterus, Aplasia/Hypoplasia of the tongue, Abnormality of the sense of sme... ORPHA:958
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Horizontal ribs, Short ribs OMIM:200610
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Gastroesophageal reflux, Impaired oropharyngeal swallow response, Abn... ORPHA:2524
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Musk, Inability To Smell
Anosmia OMIM:254150
Trigeminal Neuralgia
Cranial nerve compression, Peripheral demyelination, CNS demyelination ORPHA:221091
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Aural Atresia, Congenital
Hyposmia OMIM:607842
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Chromosome breakage, Abnormality of chromosome stability OMIM:208910
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Anal atresia, Dysplastic corpus callosum, Velopharyngeal insufficiency, Low hanging columella, Mi... ORPHA:363444
Diastrophic Dysplasia
Kyphosis, Abnormal clavicle morphology, Scoliosis, Abnormal form of the vertebral bodies, Abnorma... ORPHA:628
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
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Micropenis, Hypospadias, Hypogonadotropic hypogonadism, Delayed puberty, Cryptorchidism, Anosmia OMIM:619718
Wilson Disease
Hypoparathyroidism, Hepatomegaly, Decreased nerve conduction velocity, Hyposmia, Splenomegaly, Ci... OMIM:277900
Peroxisome Biogenesis Disorder 9B
Anosmia OMIM:614879
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Platyspondyly, Short neck, Scoliosis, Pectus carinatum, Hyperlor... ORPHA:582
Parkinson Disease 8, Autosomal Dominant
Substantia nigra gliosis, Lewy bodies, Hyposmia OMIM:607060
Bohring-Opitz Syndrome
Gray matter heterotopia, Narrow palate, Supernumerary nipple, Gastroesophageal reflux, Intestinal... OMIM:605039
Combined Oxidative Phosphorylation Defect Type 7
Facial diplegia, Paralytic ileus, Peripheral axonal neuropathy, Hypoplasia of the corpus callosum... ORPHA:254930
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High palate, Bulbous nose, Hydrocephalus, Leukodystrophy, Depressed nasal tip, Short uvula, Short... OMIM:619475
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Cirrhosis, Macrovesicular hepatic steatosis, Decr... OMIM:256810
Spinocerebellar Ataxia 25
Abnormal cerebral white matter morphology, Decreased number of peripheral myelinated nerve fibers OMIM:608703
Cockayne Syndrome B
Abnormal peripheral myelination, Slender nose, Normal pressure hydrocephalus, Basal ganglia calci... OMIM:133540
Achondrogenesis, Type Ia
Narrow chest, Short clavicles, Short ribs, Hypoplastic sacrum, Barrel-shaped chest, Short neck, B... OMIM:200600
Campomelic Dysplasia
Cleft palate, Abnormality of the sense of smell, Depressed nasal bridge, Male pseudohermaphroditi... ORPHA:140
Autosomal Recessive Spastic Paraplegia Type 35
Cerebral cortical atrophy, Corpus callosum atrophy, Hypoplasia of the corpus callosum, Optic atro... ORPHA:171629
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal rib morphology, Platyspondyly, Pectus carinatum ORPHA:93351
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Short neck, Scoliosis, Abnormal rib morphology OMIM:611209
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Waardenburg Syndrome, Type 4C
Lacrimal gland hypoplasia, Anosmia, Hypogonadism, Cryptorchidism, Aganglionic megacolon OMIM:613266
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
High palate, Supernumerary nipple, Micropenis, Hyposmia, Microcephaly, Hypoplasia of the corpus c... OMIM:618653
Giant Axonal Neuropathy 1, Autosomal Recessive
Sensory axonal neuropathy, Morphological abnormality of the pyramidal tract, Decreased number of ... OMIM:256850
Young-Onset Parkinson Disease
Female sexual dysfunction, Male sexual dysfunction, Hyposmia ORPHA:2828
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, Short nose, Protrudi... OMIM:619179
Bosma Arhinia Microphthalmia Syndrome
High palate, Cleft palate, Micropenis, Aplasia of the nose, Hypogonadotropic hypogonadism, Primar... OMIM:603457
Leopard Syndrome 1
Hypoplasia of the ovary, Depressed nasal ridge, Micropenis, Delayed menarche, Hyposmia, Hypospadi... OMIM:151100
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Juberg-Hayward Syndrome
Abnormal rib morphology, Scoliosis, Abnormal vertebral morphology ORPHA:2319
Charge Syndrome
Labial hypoplasia, Cleft palate, Depressed nasal bridge, Tracheoesophageal fistula, Optic atrophy... ORPHA:138
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Cerebral atrophy OMIM:614116
Kufor-Rakeb Syndrome
Dysphagia, Anosmia, Hyposmia OMIM:606693
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Dysplastic corpus callosum, Absence of pubertal development, Hypospadias... ORPHA:314679
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Hepatomegaly, Anisocytosis, Microcephaly, Prominent nasal bridge OMIM:604273
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal rib morphology, Kyphosis, Short neck, Pectus carinatum ORPHA:3082
Amoebiasis Due To Free-Living Amoebae
Abnormal basal ganglia morphology, Hyposmia, Myocardial necrosis, Abnormality of the adrenal glan... ORPHA:68
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions, Depressed nasal bridge, Broad columella, ... ORPHA:557003
Lig4 Syndrome
Abnormality of chromosome stability ORPHA:99812
Refsum Disease, Classic
Anosmia OMIM:266500
Hereditary Late-Onset Parkinson Disease
Gliosis, Cerebral cortical atrophy, Hyposmia, Lewy bodies, Dysphagia ORPHA:411602
Icf Syndrome
Abnormality of chromosome stability ORPHA:2268
Gracile Bone Dysplasia
Hydrocephalus, Micropenis, Hypoplastic spleen, Ankyloglossia, Asplenia OMIM:602361
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Microcephaly, Sensory axonal neuropathy, Abnormal cerebral white... ORPHA:466768
Cooper-Jabs Syndrome
Abnormal rib morphology, Scoliosis, Missing ribs ORPHA:1488
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents OMIM:610832
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Glutaric Acidemia I
Delayed myelination, Hepatomegaly, Symmetrical progressive peripheral demyelination OMIM:231670
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Pachygyria, Thick cerebral cortex, Primary microcephaly, Prominent na... ORPHA:357058
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Hypophosphatasia
Narrow chest, Abnormal rib morphology ORPHA:436
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Decreased nerve conduction velocity, Peripheral hypomyelination, Sen... OMIM:618733
Melnick-Needles Syndrome
Narrow chest, Short clavicles, Scoliosis, Abnormal rib morphology, Anisospondyly, Short thorax ORPHA:2484
Charge Syndrome
Labial hypoplasia, External genital hypoplasia, Cleft palate, Tracheoesophageal fistula, Hypoplas... OMIM:214800
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Hepatomegaly, Hypochromic microcytic anemia, CNS hypomyelination, Sec... OMIM:619423
Microgastria-Limb Reduction Defects Association
Aganglionic megacolon, Bicornuate uterus, Gastroesophageal reflux, Intestinal malrotation, Spleno... OMIM:156810
Mitochondrial Dna-Associated Leigh Syndrome
Demyelinating peripheral neuropathy, Hepatomegaly, Segmental peripheral demyelination/remyelinati... ORPHA:255210
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Thick corpus callosum, Bulbous nose, Dysplastic corpus callosum, Lateral ventricle dilatation, Pe... ORPHA:544488
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Abno... ORPHA:1834
Prune Belly Syndrome
Abnormal rib morphology, Pectus excavatum, Scoliosis, Vertebral segmentation defect ORPHA:2970
Cole-Carpenter Syndrome
Abnormal rib morphology, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decrease... OMIM:162400
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology ORPHA:2772
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction ... OMIM:270550
Osteogenesis Imperfecta, Type X
Narrow chest, Thin ribs, Platyspondyly, Scoliosis, Broad ribs, Vertebral compression fracture OMIM:613848
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Short ribs ORPHA:2519
Osteogenesis Imperfecta, Type Xviii
Biconcave vertebral bodies, Vertebral compression fracture, Thin ribs OMIM:617952
Renpenning Syndrome
Sprengel anomaly, Pectus excavatum, Abnormal rib morphology ORPHA:3242
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability OMIM:300514
Bloom Syndrome
Azoospermia, Chromosome breakage, Abnormality of chromosome stability OMIM:210900
Superficial Siderosis
Dysgyria, Partial anosmia, Abnormality of the vestibulocochlear nerve, Anosmia, Abnormal corpus c... ORPHA:247245
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Gastroesophageal reflux, Decreased nerve ... OMIM:201300
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal rib morphology, Abnormally ossified vertebrae ORPHA:3035
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Gastrointestinal dysmotility, Hyposmia OMIM:616488
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal rib morphology, Pectus carinatum, Hyperlordosis ORPHA:3068
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Cerebral cortical atrophy, Dysplastic corpus call... ORPHA:488627
Occipital Horn Syndrome
Hiatus hernia, High, narrow palate, Gastroesophageal reflux, Abnormality of the sense of smell, C... ORPHA:198
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Phaver Syndrome
Abnormal rib morphology, Butterfly vertebrae, Abnormal form of the vertebral bodies ORPHA:2876
Autosomal Recessive Spastic Paraplegia Type 55
Optic neuropathy, Focal white matter lesions, Decreased sensory nerve conduction velocity, Onion ... ORPHA:320375
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Multilobulated spleen, Patent ductus arteriosus, Hyp... OMIM:601186
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology ORPHA:2145
Mismatch Repair Cancer Syndrome 1
Adenomatous colonic polyposis, Gray matter heterotopia, Plexiform neurofibroma, Pleomorphic xanth... OMIM:276300
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axo... OMIM:208920
Fanconi Anemia, Complementation Group L
Chromosomal breakage induced by crosslinking agents, Chromosome breakage OMIM:614083
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Decreased number of peripheral myelinated nerve fibers, Periphe... ORPHA:320406
Trisomy 13
Narrow chest, Kyphosis, Scoliosis, Abnormal rib morphology ORPHA:3378
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral chest hypoplasia, Abnormality of the vertebral column, Scoliosis, Abnormal rib morphol... OMIM:308205
Holzgreve Syndrome
Abnormal rib morphology, Abnormally ossified vertebrae ORPHA:2167
Campomelia, Cumming Type
Abnormal rib morphology, Abnormally ossified vertebrae, Abnormal thorax morphology ORPHA:1318
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal rib morphology, Vertebral segmentation defect ORPHA:1120
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Aplastic clavicle, Abnormal rib morph... ORPHA:2769
East Syndrome
Hyperaldosteronism, Peripheral axonal neuropathy, Peripheral hypomyelination, Increased circulati... ORPHA:199343
Charcot-Marie-Tooth Disease Type 1F
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:101085
Poland Syndrome
Sprengel anomaly, Vertebral segmentation defect, Kyphosis, Abnormal sternum morphology, Asymmetry... ORPHA:2911
Alagille Syndrome
Vertebral segmentation defect, Abnormal form of the vertebral bodies, Spina bifida occulta, Abnor... ORPHA:52
Revesz Syndrome
Abnormality of chromosome stability OMIM:268130
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Median cleft lip and palate, Hypopl... ORPHA:699
Melanoma, Cutaneous Malignant, Susceptibility To, 9
Melanoma OMIM:615134
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability ORPHA:175
Microcephaly-Micromelia Syndrome
Narrow chest, Short neck, Abnormal rib morphology OMIM:251230
Waardenburg Syndrome, Type 2E
Cerebral hypomyelination, Anosmia OMIM:611584
Pyknoachondrogenesis
Enlarged thorax, Unossified sacrum, Short ribs, Poorly ossified vertebrae, Horizontal ribs, Short... ORPHA:3003
Cleidocranial Dysplasia
Narrow chest, Short clavicles, Down-sloping shoulders, Scoliosis, Spina bifida occulta, Abnormal ... ORPHA:1452
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents OMIM:603467
Zttk Syndrome
High palate, Dysplastic corpus callosum, Intestinal atresia, Depressed nasal bridge, Bifid uvula,... OMIM:617140
Cenani-Lenz Syndrome
Abnormal rib morphology, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3258
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Wide nose, Decreased nerve conduction vel... ORPHA:477817
Tetraamelia-Multiple Malformations Syndrome
Abnormal rib morphology, Missing ribs, Abnormally ossified vertebrae ORPHA:3301
Lacrimoauriculodentodigital Syndrome
Bicornuate uterus, Xerostomia, Bifid uvula, Abnormal salivary gland morphology, Lacrimal gland ap... ORPHA:2363
Combined Pituitary Hormone Deficiencies, Genetic Forms
Depressed nasal ridge, Median cleft lip and palate, Anterior pituitary agenesis, Abnormal prolact... ORPHA:95494
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, Hypothyroidism, Wide... OMIM:618569
Fanconi Anemia, Complementation Group E
Chromosomal breakage induced by crosslinking agents OMIM:600901
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormal scapula morphology, Platyspondyly, Narrow chest, Abnormal rib morphology ORPHA:93317
Mosaic Trisomy 8
Narrow chest, Vertebral segmentation defect, Short neck, Scoliosis, Abnormal rib morphology ORPHA:96061
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Bulbous nose, Cleft palate, Microcephaly, Short nose, Delayed peripheral myelination, Short colum... ORPHA:364577
Microcephaly, Short Stature, And Limb Abnormalities
Abnormal rib morphology OMIM:617604
Fanconi Anemia, Complementation Group A
Chromosomal breakage induced by crosslinking agents OMIM:227650
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Thick corpus callosum, Dysplastic corpus callosum, Gastroesophageal reflux, Cryptorchidism, High,... OMIM:300967
Fanconi Anemia, Complementation Group C
Chromosomal breakage induced by crosslinking agents OMIM:227645
Radio-Renal Syndrome
Abnormal rib morphology, Short neck, Abnormal form of the vertebral bodies ORPHA:3015
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Cleft palate, Depressed nasal bridge, Polymicrogyria, Hypoplasia of the corpus callosum, Optic at... ORPHA:500150
White-Kernohan Syndrome
Dysplastic corpus callosum, Gastroesophageal reflux, Depressed nasal bridge, Hypothyroidism, Shor... OMIM:619426
Vacterl/Vater Association
Abnormal rib morphology, Abnormal sacrum morphology, Vertebral segmentation defect, Abnormal inte... ORPHA:887
Fanconi Anemia
Azoospermia, Abnormality of chromosome stability ORPHA:84
Witteveen-Kolk Syndrome
High palate, Depressed nasal bridge, Hypoplasia of the corpus callosum, Short nose, Delayed CNS m... OMIM:613406
Aspergillosis
Abnormal rib morphology, Abnormality of the vertebral column ORPHA:1163
Hurler Syndrome
Spinal canal stenosis, Abnormal clavicle morphology, Short neck, Scoliosis, Abnormal rib morpholo... ORPHA:93473
Nijmegen Breakage Syndrome
Abnormality of chromosome stability ORPHA:647
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dysplastic corpus callosum, Gastroesophageal reflux, Cryptorchidism, Supernumerary nipple, High, ... ORPHA:466791
Oculocerebrocutaneous Syndrome
Abnormal rib morphology, Missing ribs ORPHA:1647
Multiple Pterygium-Malignant Hyperthermia Syndrome
Abnormal rib morphology, Kyphosis, Pectus excavatum, Scoliosis ORPHA:2215
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Chronic axonal neuropathy, Hyperaldosteronism, Peripheral hypomyelination, Increased circulating ... OMIM:612780
Fanconi Anemia, Complementation Group D2
Chromosomal breakage induced by crosslinking agents OMIM:227646
Choreoacanthocytosis
Small basal ganglia, Cerebral cortical atrophy, Frontal cortical atrophy, Hepatomegaly, Splenomeg... ORPHA:2388
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Charcot-Marie-Tooth Disease Type 4C
Demyelinating peripheral neuropathy, Decreased motor nerve conduction velocity, Facial paralysis,... ORPHA:99949
Antley-Bixler Syndrome
Narrow chest, Abnormal rib morphology ORPHA:83
Trisomy 1Q
Abnormal rib morphology, Short thorax ORPHA:261344
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology, Scoliosis ORPHA:1300
Schwartz-Jampel Syndrome
Sprengel anomaly, Kyphosis, Pectus excavatum, Spinal rigidity, Abnormally straight spine, Abnorma... ORPHA:800
Monosomy 9Q22.3
Kyphosis, Pectus excavatum, Abnormality of the vertebral column, Short neck, Abnormal rib morphology ORPHA:77301
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Decreased distal sensory nerve action potential, Myelin outfoldings, Tongue atrophy ORPHA:99956
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Demyelinating peripheral neuropathy, Basal lamina onion bulb formation ORPHA:2821
Otopalatodigital Syndrome Type 2
Narrow chest, Scoliosis, Abnormal vertebral segmentation and fusion, Abnormal rib morphology ORPHA:90652
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Scoliosis, Abnormal lumbar spine morphology, Abnormal rib morpholog... ORPHA:249
Osteogenesis Imperfecta
Narrow chest, Kyphosis, Cervical kyphosis, Pectus excavatum, Thin ribs, Multiple rib fractures, E... ORPHA:666
Camptodactyly Syndrome, Guadalajara Type 3
Abnormal rib morphology, Short neck, Spina bifida occulta ORPHA:488434
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Gastroesophageal reflux OMIM:223900
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers OMIM:256800
Dextrocardia
Abnormal rib morphology ORPHA:1666
Mucopolysaccharidosis Type 3
Abnormal rib morphology, Abnormal clavicle morphology, Scoliosis, Abnormal form of the vertebral ... ORPHA:581
Myhre Syndrome
Abnormal rib morphology, Platyspondyly ORPHA:2588
Simpson-Golabi-Behmel Syndrome
Vertebral segmentation defect, Pectus excavatum, Short neck, Scoliosis, Abnormal rib morphology, ... ORPHA:373
Monosomy 9P
Abnormal rib morphology, Abnormality of the vertebral column, Short neck, Scoliosis ORPHA:261112
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Narrow chest, Scoliosis, Abnormal rib morphology, Hypoplastic scapulae, Abnormal vertebral morpho... ORPHA:95699
Ulbright-Hodes Syndrome
Short sternum, Thin ribs, Short ribs, Short neck, Ovoid thoracolumbar vertebrae, Abnormal rib mor... ORPHA:3404
Trisomy 18
Abnormal rib morphology ORPHA:3380
Smith-Lemli-Opitz Syndrome
Kyphosis, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:818
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology ORPHA:2907
Alagille Syndrome 1
Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch OMIM:118450
Pagod Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:991
Vater/Vacterl Association
Abnormal rib morphology, Abnormal sternum morphology, Scoliosis, Abnormal vertebral morphology OMIM:192350
Oculocerebrorenal Syndrome Of Lowe
Abnormal rib morphology, Kyphosis, Platyspondyly, Scoliosis 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
Dyskeratosis Congenita
Neoplasm of the pancreas, Malabsorption, Hepatomegaly, Splenomegaly, Cerebral calcification, Cirr... ORPHA:1775
Kindler Epidermolysis Bullosa
Abnormal rib morphology ORPHA:2908
Townes-Brocks Syndrome
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:857
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Urethral stricture, Chronic diarrhea OMIM:613989
Familial Melanoma
Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach ORPHA:618
Hoyeraal-Hreidarsson Syndrome
Failure to thrive ORPHA:3322
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Gastroesophageal reflux, Cirrhosis, Aplastic anemia, Mediastinal lymphadenopathy, Myeloid leukemi... OMIM:614742
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Epistaxis, Reti... 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.

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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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