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Gene: Tert MGI:1202709

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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

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.

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
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect OMIM:608681
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Abnormality of the sense of sm... OMIM:146110
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation defect, Scoliosi... OMIM:609813
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Decreased testicular size, Hypogonadotropic hypogonadism, Hypergo... OMIM:604168
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Az... OMIM:235200
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Scoliosis, Pectus carinatum ORPHA:3268
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:607734
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Basal ganglia calcification, Cerebral atrophy, Leukoencephalopathy, Axonal loss,... OMIM:221770
N Syndrome
Cryptorchidism, Abnormality of chromosome stability OMIM:310465
Myotonic Dystrophy 1
Cerebral atrophy, Facial diplegia, Hypogonadism, Dysphagia, Cholelithiasis, Testicular atrophy OMIM:160900
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... OMIM:604213
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Ab... OMIM:610628
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Anteverted nares, Testicular atrophy, Intestinal malrotation OMIM:601163
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular ... OMIM:614858
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the ver... ORPHA:2790
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia, Azoospermia, Hypergonadotropic hypogonadism, Leukoencephalopathy OMIM:613724
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal rib morphology, Narrow chest, Abnormal form of the vertebral bodies ORPHA:1354
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Cerebral calcification, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy,... OMIM:613987
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, High palate, Small pi... OMIM:612702
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration... OMIM:620378
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers, Gonadal dysgenesis, Hypergonadotropic hyp... OMIM:607080
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Cleft palate, Bifid nose, Hyposmia, Micropenis, Decreased... OMIM:614838
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Abnormal ... ORPHA:1801
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia, Hypogonadotropic hypogonadism OMIM:615266
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Axonal loss, Cerebral cortical atrophy, Secondary microcephaly, Hypoplasia of t... OMIM:617672
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen... OMIM:606483
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Delayed CNS myelination, Prominent nasal bridge, Reduced cerebral white matter volume, Prominent ... OMIM:620317
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Optic atrophy,... OMIM:222300
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Choanal atresia, Cryptorchidism, Anosmia, Cleft palate, Primary am... OMIM:147950
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Microcephaly, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Oral... OMIM:618165
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Myelin outfoldings, Onion bulb formation,... OMIM:118200
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hormone level, Dec... OMIM:614897
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... OMIM:614895
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... OMIM:214400
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends ORPHA:168555
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:145900
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Cleft palate, Small pituitary gland, Micropenis, Dec... OMIM:614880
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... OMIM:118210
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Absence of pubertal d... OMIM:614837
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Hypertrophic nerve changes, Onion bulb fo... OMIM:180800
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Symmetric peripheral demyelination, Corpus callosum atrophy, Diffuse leukoencephalopathy, Impoten... OMIM:169500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:118220
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Micropenis, Hypoplasi... OMIM:614841
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Anosmia, Hypogonadotropic hypogonadism, Cleft palate OMIM:612370
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Abnormal periventricular white matter morphology, Peripheral demyelination, Dy... OMIM:249900
Mismatch Repair Cancer Syndrome 4
Glioblastoma multiforme, Astrocytoma, Adenomatous colonic polyposis, Gray matter heterotopia, Col... OMIM:619101
Bardet-Biedl Syndrome 19
External genital hypoplasia, Patent ductus arteriosus, Hypogonadism, Hypoplasia of the corpus cal... OMIM:615996
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Anosmia, Pri... OMIM:616030
Krabbe Disease
Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Hydrocephalus, Optic atrophy, CNS demyelin... OMIM:245200
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Peripheral demyelination, Axonal regeneration OMIM:615185
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Cleft pala... ORPHA:1135
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Aganglionic megacolon, Short-segment aganglionic megacolon, Cerebral dysmyelination, Portal hyper... OMIM:609136
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum testosterone concentration, Streak ovary, Abnormality of female external genitali... ORPHA:168563
Subacute Inflammatory Demyelinating Polyneuropathy
Symmetric peripheral demyelination, Demyelinating motor neuropathy, Leukocytosis, Axonal loss, Di... ORPHA:206594
Aarskog-Scott Syndrome
Anteverted nares, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypt... OMIM:305400
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Cleft palate, Hyposmi... OMIM:244200
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Impaired oropharyngeal swallow response, Onion bulb formation, Acute demyelinating polyneuropathy ORPHA:98916
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Tongue atrophy, Greater auricular nerve thickening, Facial palsy,... OMIM:601596
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs OMIM:617405
Hydrolethalus
Absent septum pellucidum, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Anencephaly... ORPHA:2189
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:311070
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Clusters of axonal regeneration, Chronic axonal neur... ORPHA:101097
Gorlin Syndrome
Cerebral calcification, Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Wide nasal ... ORPHA:377
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de... OMIM:608340
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration, Dysphagia OMIM:607736
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:601098
Pelizaeus-Merzbacher Disease
Reduction of oligodendroglia, Cerebral dysmyelination, Microcephaly, Sudanophilic leukodystrophy,... OMIM:312080
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Anosmia, Primary amenorrh... OMIM:618841
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Peroxisome Biogenesis Disorder 8B
Corpus callosum atrophy, Optic atrophy, Abnormal cerebral white matter morphology, Leukodystrophy... OMIM:614877
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Hypoplasia of penis, Anterior pituitary hypoplasia, Optic nerve hypoplasia... ORPHA:3157
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation, Hypoplasia of the corpus callosum OMIM:615035
Charcot-Marie-Tooth Disease, Axonal, Type 2I
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
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the ... ORPHA:2635
Null Syndrome
Optic atrophy, Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination ORPHA:280234
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Hypoplasia of the corpus callosum ORPHA:2386
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis OMIM:259440
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology OMIM:605253
Lissencephaly Syndrome, Norman-Roberts Type
Wide nose, Cerebral calcification, 4-layered lissencephaly, Primary microcephaly, Wide nasal brid... ORPHA:89844
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel... OMIM:609311
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Onion bul... OMIM:607706
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Microcephaly, Anosmia, Hypogonadism, Short nose, Short nasal septum OMIM:302950
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy OMIM:608673
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Segmental peripheral demyelination/remyelination ORPHA:2932
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Peripheral demyelination OMIM:618279
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum OMIM:613162
Huntington Disease
Caudate atrophy, Oral-pharyngeal dysphagia, Cerebral atrophy, Abnormality of the sense of smell, ... ORPHA:399
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Secondary amenorrh... OMIM:157640
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Peripheral axonal atrophy,... OMIM:609260
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Delayed myelination, Cerebral white matter atrophy ORPHA:599373
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia, Delayed puberty OMIM:615271
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:604563
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Pachygyria, Dysplastic corpus callos... ORPHA:171680
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Decreased proportion of CD8-positive T cells, Abnormal oligodendro... ORPHA:217260
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Multiple Sulfatase Deficiency
Hepatomegaly, Anteverted nares, Splenomegaly, Hydrocephalus, Cerebral atrophy, CNS demyelination,... OMIM:272200
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination OMIM:616684
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Central hy... OMIM:616113
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Charcot-Marie-Tooth Disease Type 4G
Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy ORPHA:99953
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Motor axonal neuropathy, Microcephaly OMIM:618276
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... OMIM:617087
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Onion bulb for... OMIM:605588
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination OMIM:162500
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Depressed nasal bridge, Mic... ORPHA:251066
Tangier Disease
Hepatomegaly, Peripheral axonal neuropathy, Splenomegaly, Facial diplegia, Peripheral demyelination OMIM:205400
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia, Hypogonadism, Absence of pubertal development OMIM:615267
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs OMIM:615633
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia, Hypogonadism, Delayed puberty OMIM:615270
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation OMIM:618184
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination ORPHA:99944
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy ORPHA:497764
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Peripheral hypomyelination, Oral-pharyngeal dysphagia OMIM:616287
Adult Krabbe Disease
Abnormal pyramidal tract morphology, Abnormal corticospinal tract morphology, Erectile dysfunctio... ORPHA:206448
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Onion bulb formation OMIM:610100
Poland Syndrome
Rib fusion, Hemivertebrae, Short ribs, Sprengel anomaly OMIM:173800
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Abetalipoproteinemia
CNS demyelination, Fat malabsorption, Peripheral demyelination, Acanthocytosis OMIM:200100
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal rib... ORPHA:2522
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ... OMIM:605285
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Peripheral axonal neuropathy, Small intestinal dysmoti... ORPHA:298
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination ORPHA:71211
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... ORPHA:64755
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Degeneration of the lateral corticospinal... OMIM:604360
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Lissencephaly, X-Linked, 2
Prominent nasal bridge, Wide nasal bridge, High palate, Lissencephaly, Gliosis, Ambiguous genital... OMIM:300215
Lesch-Nyhan Syndrome
Testicular atrophy, Vomiting, Dysphagia OMIM:300322
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Onion bulb formation, Peripheral hypomyelination OMIM:611228
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Onion bulb formation, High palate, Facial palsy OMIM:607684
Charcot-Marie-Tooth Disease, Type 4B1
Myelin outfoldings, Irregular myelin loops, Facial palsy OMIM:601382
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Dysplastic corpus callosum, Hypospadias, Anemia OMIM:620135
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Anteverted nares, Prominent nasal bridge, Megalencephaly, Cryptorchidism, Bulbous no... ORPHA:3063
Johnson Neuroectodermal Syndrome
Choanal atresia, Facial palsy, Microcephaly, Bulbous nose, Anosmia, Cleft palate, Hypogonadism ORPHA:2316
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Ciliary Dyskinesia, Primary, 1
Male infertility, Communicating hydrocephalus, Nasal polyposis, Asplenia, Absent outer dynein arm... OMIM:244400
Fanconi Anemia, Complementation Group O
Cryptorchidism, Chromosome breakage OMIM:613390
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Diffuse white matter abnormalitie... OMIM:218000
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Hypergonadotropic hypogonadism, Dysplastic corpus callosum, Primary amenorrhea... OMIM:619737
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck ORPHA:2234
Fibrochondrogenesis 2
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia OMIM:614524
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... OMIM:613686
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Clavicular pseudarthrosis, Hypoplasia of the odontoid pro... OMIM:156530
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Thin corpus callosum, Axonal loss, Glio... OMIM:252160
Ataxia-Telangiectasia
Abnormality of chromosome stability, Abnormal testis morphology ORPHA:100
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Periphe... OMIM:600882
Holoprosencephaly
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Panhypopituitarism, Absent... ORPHA:2162
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor... ORPHA:250972
Posterior Column Ataxia With Retinitis Pigmentosa
Achalasia, Optic atrophy, Peripheral demyelination OMIM:609033
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Hypoplas... OMIM:614842
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, High palate, Primary microcephaly OMIM:618010
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn... ORPHA:273
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Wide nose, Underdeveloped nasal alae, Cryptorchidism, Abnormality of the sen... ORPHA:284160
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hor... OMIM:614839
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Hypergonadotropic hypogonadism, Decreased number of large peripheral myelinated nerve fibers, Opt... OMIM:271245
Mucolipidosis Iv
Achlorhydria, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Optic atrophy, H... OMIM:252650
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... OMIM:604484
Peho Syndrome
Optic atrophy, Peripheral dysmyelination, Hypoplasia of the corpus callosum, Short nose, Pachygyr... OMIM:260565
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Partial anosmia, Total anosmia, Bilateral cryptorchidism, Midgut m... ORPHA:2326
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ribs, Flaring ... ORPHA:168549
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Anosmia, Abnormal nostril morp... ORPHA:1295
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Mirage Syndrome
Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Esophageal stric... OMIM:617053
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest ORPHA:93267
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:85327
Immunodeficiency 54
Chromosome breakage OMIM:609981
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Peripheral axonal neuropathy, Anteverted nares, Dysplastic corpus callosum, Wide na... OMIM:618810
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... ORPHA:474
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia, Delayed puberty OMIM:274190
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Short neck, Kyphosis, Sh... ORPHA:2311
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Axonal de... OMIM:302800
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth... OMIM:147250
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Aganglionic megacolon, Malabsorption, Microcephaly, Cryptorchidism, Patent d... ORPHA:452
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Microcephaly, High, narrow palate, Submucous cleft hard palate, Abnormality of the sense of smell... ORPHA:3201
Metachromatic Leukodystrophy
Optic atrophy, Gallbladder dysfunction, Abnormal cerebral white matter morphology, Cholecystitis,... OMIM:250100
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Molybdenum Cofactor Deficiency, Complementation Group A
Microcephaly, Cerebral atrophy, Axonal loss, Gliosis, Hypoplasia of the corpus callosum, Short no... OMIM:252150
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers OMIM:615376
Charcot-Marie-Tooth Disease, Type 4B3
Myelin outfoldings, Onion bulb formation, Microcephaly OMIM:615284
Mosaic Trisomy 14
Abnormal rib morphology, Narrow chest, Short neck ORPHA:1703
Hyperostosis Cranialis Interna
Hyposmia, Anosmia, Optic atrophy, Facial palsy OMIM:144755
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:601455
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Cerebral at... OMIM:607250
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Bardet-Biedl Syndrome 17
Hyposmia, Micropenis, Hypogonadism, Anosmia OMIM:615994
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia, Hyperinsulinemia, Increased serum leptin OMIM:617885
Kleine-Levin Syndrome
Decreased libido, Parosmia ORPHA:33543
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Cupped ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaki... OMIM:609616
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... ORPHA:2180
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, Si... ORPHA:2250
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Hypospadias, Depressed nasal bridge, Focal polymicrogyria, Microcephaly, Cryptorchidism, Bulbous ... OMIM:619103
Autosomal Spastic Paraplegia Type 58
Abnormal cerebral white matter morphology, Peripheral demyelination, Cerebral atrophy, Microcephaly ORPHA:397946
Marcus-Gunn Syndrome
Choanal atresia, Abnormal fifth cranial nerve morphology, Cleft palate, Abnormality of the sense ... ORPHA:91412
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Anteverted nares, Prominent nasal bridge, Dysplastic corpus callosum, Bulbous nose, Cerebral atro... OMIM:616900
Achondrogenesis Type 1B
Short thorax, Abnormal rib morphology, Narrow chest, Short neck ORPHA:93298
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1836
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Severe demyelination of the white matter, Microcephaly, Jaundice, Hydroceph... ORPHA:79282
Even-Plus Syndrome
Bifid nasal tip, Dysplastic corpus callosum, Depressed nasal ridge, High palate, Short nose, Agen... OMIM:616854
Kapur-Toriello Syndrome
Hypoplasia of penis, Intestinal malrotation, Dysplastic corpus callosum, Bulbous nose, Patent duc... ORPHA:2328
White Forelock With Malformations
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology ORPHA:2475
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Lethal Congenital Contracture Syndrome Type 1
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:1486
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607831
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia, Abnormal cranial nerve morphology ORPHA:2057
Mucopolysaccharidosis, Type X
Spatulate ribs, Hyperlordosis, Broad clavicles, Platyspondyly, Posterior scalloping of vertebral ... OMIM:619698
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Onion bulb formation OMIM:614455
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Grant Syndrome
Sprengel anomaly, Abnormality of the glenoid fossa, Abnormal rib morphology, Narrow chest ORPHA:2097
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Anteverted nares, Depressed nasal bridge, Microcephaly, Dysplastic corpus callosum, Simplified gy... OMIM:620001
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Delayed CNS myelination, Supernumerary nipple, Microcephaly, Cryptorchidism, Anteriorly placed an... OMIM:618653
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral white matter atrophy, Delayed peripheral myelination, Microcephaly, Puberty and gonadal ... ORPHA:464282
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic disc pallor, Anosmia, Optic atrophy, Axonal degeneration/regeneration OMIM:601152
Fibrochondrogenesis
Hypoplastic scapulae, Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies,... ORPHA:2021
Moebius Syndrome
Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the tongue, Facial palsy, Cleft palate, Abno... ORPHA:570
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge, Frontalis muscle weakness OMIM:210745
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short neck, Thin ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Narrow vertebral ... OMIM:618395
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs ORPHA:2759
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Ileal atresia, Holoprosencephaly, Micropenis, Agenesis of corpus callo... OMIM:618820
Trigeminal Neuralgia
CNS demyelination, Cranial nerve compression, Peripheral demyelination ORPHA:221091
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus callosum, Gastroesophage... ORPHA:2524
Femoral-Facial Syndrome
Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Vertebral segmentation defect, S... ORPHA:1988
Cockayne Syndrome A
Slender nose, Hepatomegaly, Abnormal peripheral myelination, Prominent nose, Microcephaly, Crypto... OMIM:216400
Dworschak-Punetha Neurodevelopmental Syndrome
Peripheral axonal neuropathy, Depressed nasal bridge, Microcephaly, Dysplastic corpus callosum, C... OMIM:619955
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Peripheral dysmyelination ORPHA:101082
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Lateral ventricle dilatatio... OMIM:256850
Glutaric Acidemia I
Hepatomegaly, Hydrocephalus, Delayed myelination, Symmetrical progressive peripheral demyelinatio... OMIM:231670
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Kyphosis, Abnormal rib mo... ORPHA:392
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Anosmia, Delayed puberty, Micropenis OMIM:619718
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ... OMIM:614833
Peroxisome Biogenesis Disorder 9B
Anosmia, Total anosmia OMIM:614879
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Uterus didelphys, Abnormality of the... ORPHA:958
Parkinson Disease 8, Autosomal Dominant
Hyposmia, Lewy bodies, Substantia nigra gliosis OMIM:607060
Aural Atresia, Congenital
Hyposmia OMIM:607842
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypospadias, Anteverted nares, Microcephaly, Microvesicular hepatic steatosis, Partial agenesis o... OMIM:220111
Waardenburg Syndrome, Type 4C
Aganglionic megacolon, Cryptorchidism, Anosmia, Lacrimal gland hypoplasia, Hypogonadism OMIM:613266
Refsum Disease
Splenomegaly, Anosmia ORPHA:773
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Oral-pharyn... ORPHA:254930
Cockayne Syndrome B
Slender nose, Hepatomegaly, Abnormal peripheral myelination, Prominent nasal bridge, Microcephaly... OMIM:133540
Diastrophic Dysplasia
Abnormal clavicle morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral b... ORPHA:628
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Abnormal cerebral white matter morphology OMIM:608703
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Short thorax, Abnormal rib morphology, Spinal canal stenosis... ORPHA:582
Musk, Inability To Smell
Anosmia OMIM:254150
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, High, narrow palate, High palate, Leukodystrophy, Micropenis, Hepatic steatosis, H... OMIM:619475
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Bohring-Opitz Syndrome
Bilateral cleft palate, Anteverted nares, Intestinal malrotation, Supernumerary nipple, Delayed p... OMIM:605039
Lig4 Syndrome
Cryptorchidism, Abnormality of chromosome stability ORPHA:99812
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
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Hepatomegaly, Hepatocellular carcinoma, Thrombocytopenia, A... OMIM:277900
Autosomal Recessive Spastic Paraplegia Type 35
Corpus callosum atrophy, Optic atrophy, Eye of the tiger anomaly of globus pallidus, Hypoplasia o... ORPHA:171629
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Abnormal rib morphology, Pectus carinatum ORPHA:93351
Leukodystrophy, Hypomyelinating, 5
Cerebral white matter atrophy, Onion bulb formation, Leukodystrophy, CNS hypomyelination OMIM:610532
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Choanal atresia, Cryptorchidism, Anosmia, Cleft palat... OMIM:603457
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic sacrum, Hypoplastic scapulae, Beaded ribs, Short neck, Broad cla... OMIM:200600
Charcot-Marie-Tooth Disease Type 4A
Decreased number of large peripheral myelinated nerve fibers, Demyelinating peripheral neuropathy... ORPHA:99948
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Protruding tongue, Microcephaly, Dysplastic corpus callosum, Simplified g... OMIM:619179
Charge Syndrome
Bifid scrotum, Aqueductal stenosis, Gastroesophageal reflux, Holoprosencephaly, Micropenis, Hypog... ORPHA:138
Kufor-Rakeb Syndrome
Hyposmia, Anosmia, Dysphagia OMIM:606693
Young-Onset Parkinson Disease
Hyposmia, Female sexual dysfunction, Male sexual dysfunction ORPHA:2828
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Hypospadias, Endometriosis, Long nose, Dysplastic corpus callosu... ORPHA:363444
Campomelic Dysplasia
Depressed nasal bridge, Male pseudohermaphroditism, Cleft palate, Abnormality of the sense of sme... ORPHA:140
Juberg-Hayward Syndrome
Abnormal rib morphology, Abnormal vertebral morphology, Scoliosis ORPHA:2319
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Bilateral cryptorchidism, Celiac disease, Bulbous nose, Dysplastic corpus callosum, Periventricul... ORPHA:544488
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Cerebral atrophy OMIM:614116
Leopard Syndrome 1
Hypospadias, Delayed menarche, Cryptorchidism, Depressed nasal ridge, Cleft palate, Hypoplasia of... OMIM:151100
Hereditary Late-Onset Parkinson Disease
Gliosis, Dysphagia, Hyposmia, Lewy bodies, Cerebral cortical atrophy ORPHA:411602
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anosmia OMIM:243000
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Kyphosis, Abnormal rib morphology, Short neck ORPHA:3082
Icf Syndrome
Abnormality of chromosome stability ORPHA:2268
Cerebrofacioarticular Syndrome
Anal stenosis, Hypospadias, Microcephaly, Bilateral choanal atresia/stenosis, Dysplastic corpus c... ORPHA:314679
Fanconi Anemia, Complementation Group P
Cryptorchidism, Chromosomal breakage induced by crosslinking agents OMIM:613951
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Prominent nasal bridge, Anisocytosis, Microcephaly, Dysplastic corpus callosum OMIM:604273
Cooper-Jabs Syndrome
Abnormal rib morphology, Scoliosis, Missing ribs ORPHA:1488
Autosomal Recessive Cutis Laxa Type 2A
Thick cerebral cortex, Prominent nasal bridge, Dysplastic corpus callosum, Prominent nasolabial f... ORPHA:357058
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Facial palsy, Abnormal basal ganglia morphology, Abnormal cerebral white mat... ORPHA:68
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents OMIM:610832
Spastic Ataxia 5, Autosomal Recessive
Onion bulb formation, Dysphagia OMIM:614487
Bloom Syndrome
Cryptorchidism, Abnormality of chromosome stability, Azoospermia, Chromosome breakage OMIM:210900
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Delayed CNS myelination, Dysplastic corpus callosum, Cholestasis, Cleft palate, Leu... OMIM:614924
Oculoskeletodental Syndrome
Depressed nasal bridge, Dysplastic corpus callosum, Wide nasal bridge, Thick nasal alae, Focal wh... ORPHA:557003
Refsum Disease, Classic
Anosmia OMIM:266500
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents OMIM:617244
Hypophosphatasia
Abnormal rib morphology, Narrow chest ORPHA:436
Gracile Bone Dysplasia
Asplenia, Hydrocephalus, Hypoplastic spleen, Micropenis, Ankyloglossia OMIM:602361
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Melnick-Needles Syndrome
Short thorax, Abnormal rib morphology, Narrow chest, Scoliosis, Short clavicles, Anisospondyly ORPHA:2484
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Superficial Siderosis
Partial anosmia, Anosmia, Abnormality of the vestibulocochlear nerve, Dysgyria, Abnormal corpus c... ORPHA:247245
Bone Marrow Failure Syndrome 3
Cryptorchidism, Chromosome breakage OMIM:617052
Cole-Carpenter Syndrome
Kyphosis, Abnormal rib morphology, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Axial Mesodermal Dysplasia Spectrum
Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebr... ORPHA:1834
Prune Belly Syndrome
Pectus excavatum, Vertebral segmentation defect, Abnormal rib morphology, Scoliosis ORPHA:2970
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... OMIM:214800
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Biconcave vertebral bodies, Thin ribs OMIM:617952
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Segmental peripheral demyelination/remyelination, Optic atrophy, Dysphagia, Focal T... ORPHA:255210
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Dysplastic corpus callosum, Hypochromic microcytic anemia, CNS hypomyelination, Sec... OMIM:619423
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology ORPHA:3242
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology ORPHA:2772
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability OMIM:300514
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy, Abnormal peripheral myelination, Microcephaly, Abnormal cerebral white matter mor... ORPHA:466768
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents OMIM:620133
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Prominent nose, Asplenia, Thrombocytopenia, Hypoplastic spleen, A... OMIM:185070
Phaver Syndrome
Abnormal rib morphology, Butterfly vertebrae, Abnormal form of the vertebral bodies ORPHA:2876
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Anterior pituitary hypoplasia, Choanal atresia, Microcephaly, Cryptorchidism, Dyspla... OMIM:151050
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Chromosomal breakage i... OMIM:600901
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia, Gastrointestinal dysmotility OMIM:616488
Occipital Horn Syndrome
Cerebral calcification, Hiatus hernia, High, narrow palate, Jaundice, Hepatitis, Cholestasis, Abn... ORPHA:198
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Abnormal rib morphology, Hyperlordosis ORPHA:3068
Microphthalmia, Syndromic 9
Cryptorchidism, Patent ductus arteriosus, Wide nasal bridge, Multilobulated spleen, Hypoplasia of... OMIM:601186
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration ORPHA:90103
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... ORPHA:488627
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Chromosomal breakage i... OMIM:227650
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Periventricular heterotopia, Sensory axonal neuropathy, Peripheral h... OMIM:618733
Developmental And Epileptic Encephalopathy 49
Cerebral calcification, Prominent nose, Microcephaly, Basal ganglia calcification, Hydrocephalus,... OMIM:617281
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology ORPHA:2145
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Axonal degeneration, Decreased number of large peripheral myelina... OMIM:208920
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Pleomorphic xanthoastrocytoma, Astrocytoma, Adenomatous colonic polyposi... OMIM:276300
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents OMIM:614083
Autosomal Recessive Spastic Paraplegia Type 55
Optic neuropathy, Optic atrophy, Hypoplasia of the corpus callosum, Focal white matter lesions, O... ORPHA:320375
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Hypermyelinat... OMIM:270550
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Chromosomal breakage i... OMIM:227645
Fanconi Anemia, Complementation Group F
Cryptorchidism, Chromosomal breakage induced by crosslinking agents OMIM:603467
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased number of large peripheral myelinated nerve fibers, Chronic axonal neuropathy OMIM:162400
Trisomy 13
Kyphosis, Abnormal rib morphology, Narrow chest, Scoliosis ORPHA:3378
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Campomelia, Cumming Type
Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:1318
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Hepatomegaly, Microvesicular hepatic stea... OMIM:256810
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... ORPHA:2769
East Syndrome
Peripheral axonal neuropathy, Hyperaldosteronism, Peripheral hypomyelination, Increased circulati... ORPHA:199343
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Short neck, Missing ribs, Kyphosis, Hemivertebrae, Abnormal ri... ORPHA:2911
Alagille Syndrome
Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Sp... ORPHA:52
Revesz Syndrome
Abnormality of chromosome stability OMIM:268130
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Gastroesophageal reflux OMIM:201300
Melanoma, Cutaneous Malignant, Susceptibility To, 9
Melanoma OMIM:615134
Lacrimoauriculodentodigital Syndrome
Choanal atresia, Cryptorchidism, Patent ductus arteriosus, Xerostomia, Anosmia, Bicornuate uterus... ORPHA:2363
Waardenburg Syndrome, Type 2E
Cerebral hypomyelination, Anosmia OMIM:611584
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Abnormal sacrum morphology, Abnormal rib morphology... ORPHA:1452
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability ORPHA:175
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy, Demyelinating sensory neuropathy, Optic nerve hypoplasia, Demyelinating motor neu... ORPHA:101085
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs ORPHA:3301
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Pyknoachondrogenesis
Short thorax, Poorly ossified vertebrae, Enlarged thorax, Short ribs, Unossified sacrum, Horizont... ORPHA:3003
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Chromosomal breakage i... OMIM:227646
Cenani-Lenz Syndrome
Abnormal rib morphology, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3258
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Narrow nasal bridge, Prominent nose, Cryptorchidism, High, narrow palate, Patent ductus arteriosu... OMIM:300967
Zttk Syndrome
Absent gallbladder, Depressed nasal bridge, Dysplastic corpus callosum, Patent ductus arteriosus,... OMIM:617140
Mosaic Trisomy 8
Short neck, Abnormal rib morphology, Vertebral segmentation defect, Narrow chest, Scoliosis ORPHA:96061
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Abnormal rib morphology, Narrow chest, Abnormal scapula morphology ORPHA:93317
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Septo-optic dysplasia, Decreased response to growth hormone stimulat... ORPHA:95494
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Wide nose ORPHA:477817
Radio-Renal Syndrome
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:3015
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent nasal bridge, Delayed peripheral myelination, Underdeveloped nasal alae, Microcephaly, ... ORPHA:364577
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Narrow nasal bridge, Anterior pituitary hypoplasia, Supernumerary nipple, Prominent nose, Bilater... ORPHA:466791
Fanconi Anemia
Abnormality of chromosome stability, Cryptorchidism, Azoospermia, Abnormal testis morphology, Abs... ORPHA:84
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Cortical dysplasia, H... OMIM:613406
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Microcephaly, Dysplastic corpus callosum, Wide nasal bridge, Hypoplasia of the corpus callosum, H... OMIM:618569
Vacterl/Vater Association
Vertebral segmentation defect, Abnormal intervertebral disk morphology, Abnormal rib morphology, ... ORPHA:887
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
White-Kernohan Syndrome
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Dysplastic corpus callosum, ... OMIM:619426
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastrointestinal dysmotility, Simplified gyral pattern, Gastroesophageal reflux, Bifid uvula, Abs... ORPHA:500150
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Kyphosis, Abnormal rib morphology, Scoliosis ORPHA:2215
Hurler Syndrome
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Spinal canal stenosis, Scolios... ORPHA:93473
Oculocerebrocutaneous Syndrome
Abnormal rib morphology, Missing ribs ORPHA:1647
Nijmegen Breakage Syndrome
Abnormality of chromosome stability ORPHA:647
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Antley-Bixler Syndrome
Abnormal rib morphology, Narrow chest ORPHA:83
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Tongue atrophy, Optic atrophy, Facial par... ORPHA:99949
Trisomy 1Q
Short thorax, Abnormal rib morphology ORPHA:261344
Choreoacanthocytosis
Decreased number of peripheral myelinated nerve fibers, Hepatomegaly, Peripheral axonal neuropath... ORPHA:2388
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology, Scoliosis ORPHA:1300
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hyperaldosteronism, Peripheral hypomyelination, Increased circulating renin level, Chronic axonal... OMIM:612780
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Shoulder flexion contracture, Short neck, Hyperlordosis, Kyphosis,... ORPHA:800
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of the vertebral column ORPHA:77301
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy ORPHA:2821
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal rib morphology, Abnormal lumbar spine morphology, Scoliosi... ORPHA:249
Charcot-Marie-Tooth Disease Type 4B2
Myelin outfoldings, Tongue atrophy, Optic atrophy ORPHA:99956
Otopalatodigital Syndrome Type 2
Abnormal vertebral segmentation and fusion, Abnormal rib morphology, Narrow chest, Scoliosis ORPHA:90652
Osteogenesis Imperfecta
Multiple rib fractures, Cervical kyphosis, Pectus excavatum, Kyphosis, Vertebral compression frac... ORPHA:666
Camptodactyly Syndrome, Guadalajara Type 3
Spina bifida occulta, Abnormal rib morphology, Short neck 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 clavicle morphology, Abnormal rib morphology, Scoliosis, Abnormal form of the vertebral ... ORPHA:581
Myhre Syndrome
Platyspondyly, Abnormal rib morphology ORPHA:2588
Monosomy 9P
Abnormality of the vertebral column, Abnormal rib morphology, Scoliosis, Short neck ORPHA:261112
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Abnormal rib morphology, Narrow chest, Scoliosis, Abnormal vertebral morpho... ORPHA:95699
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Short neck, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation d... ORPHA:373
Ulbright-Hodes Syndrome
Short neck, Abnormal rib morphology, Ovoid thoracolumbar vertebrae, Thin ribs, Short sternum, Sho... ORPHA:3404
Smith-Lemli-Opitz Syndrome
Short neck, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis ORPHA:818
Trisomy 18
Abnormal rib morphology ORPHA:3380
Alagille Syndrome 1
Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch OMIM:118450
Vater/Vacterl Association
Abnormal sternum morphology, Abnormal vertebral morphology, Abnormal rib morphology, Scoliosis OMIM:192350
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology ORPHA:2907
Oculocerebrorenal Syndrome Of Lowe
Kyphosis, Platyspondyly, Abnormal rib morphology, Scoliosis ORPHA:534
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:991
Ear-Patella-Short Stature Syndrome
Abnormal rib morphology, Aplastic clavicle ORPHA:2554
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Diabetes mellitus, Cerebral calcific... ORPHA:1775
Autosomal Recessive Malignant Osteopetrosis
Abnormal rib morphology, Narrow chest ORPHA:667
Kindler Epidermolysis Bullosa
Abnormal rib morphology ORPHA:2908
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Townes-Brocks Syndrome
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:857
Familial Melanoma
Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach ORPHA:618
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Chronic diarrhea OMIM:613989
Hoyeraal-Hreidarsson Syndrome
Failure to thrive ORPHA:3322
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Gastroesophageal reflux, Bone marrow ... OMIM:614742
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutro... ORPHA:88
Idiopathic Pulmonary Fibrosis
Gastroesophageal reflux ORPHA:2032

Histopathology

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

There is no histopathology data for Tert

IMPC related publications

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

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

Order Mouse and ES Cells

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

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

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