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Gene: Tert MGI:1202709

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:

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

Human diseases associated with Tert (10 diseases)
Human diseases predicted to be associated with Tert (481 diseases)

The table below shows human diseases associated to Tert by orthology or direct annotation.

Disease	Matching phenotypes	Source
Meningioma	Hydrocephalus, Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituita...	ORPHA:2495
Melanoma, Cutaneous Malignant, Susceptibility To, 9	Melanoma	OMIM:615134
Dyskeratosis Congenita	Neoplasm of the pancreas, Malabsorption, Hepatomegaly, Splenomegaly, Cerebral calcification, Cirr...	ORPHA:1775
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

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

Disease	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
Tert^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Tert^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Tert^{tm213181(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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