Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
inhibitor of DNA binding 4
Synonyms:
Id4,  Idb4,  bHLHb27

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Id4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Id4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Colpocephaly,... ORPHA:2185
Alg13-Cdg
Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus, Cerebral calcification ORPHA:73256
Polyrrhinia
Abnormal third ventricle morphology, Dilation of lateral ventricles ORPHA:141091
Huntington Disease-Like 2
Weight loss, Caudate atrophy, Cerebral cortical atrophy, Abnormal cerebral morphology, Abnormal c... ORPHA:98934
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus OMIM:300864
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex ORPHA:101071
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints, Short stature, Postnatal growth retardation OMIM:608278
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology ORPHA:488635
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Gliosis, Hypoplasia of the co... ORPHA:79243
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Ventriculomegaly, Simplified gyral pattern, Colpocephaly, Lissencephaly OMIM:615219
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, Dilat... OMIM:618736
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Colpocephaly ORPHA:401815
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Abnormal cerebral white matter morphology, Cachexia, Weight loss OMIM:613662
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Short stature OMIM:146350
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Hypophosphatasia, Adult
Chondrocalcinosis, Rickets, Recurrent fractures, Osteomalacia, Pathologic fracture, Increased sus... OMIM:146300
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Short stature, Osteomalacia OMIM:193100
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Pulmonary Blastoma
Weight loss ORPHA:64741
Hypercholanemia, Familial 1
Rickets, Failure to thrive OMIM:607748
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity, Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Failure to thrive in infancy... ORPHA:284417
Juvenile Huntington Disease
Neuronal loss in basal ganglia, Abnormal cerebral white matter morphology, Ventriculomegaly, Weig... ORPHA:248111
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse cerebral atrophy, Corpus callosum atrophy, Dilation of lateral ventricles ORPHA:77299
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Growth delay, Failure to thrive OMIM:602722
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss ORPHA:100083
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Colpocephaly, Ventriculomegaly, Failure to thrive, Agenesis of corpu... OMIM:618651
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly OMIM:618731
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Microcephaly, Dilati... OMIM:617751
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology OMIM:615280
Hypocalcemic Vitamin D-Resistant Rickets
Osteolysis, Bone cyst, Recurrent fractures, Coarse metaphyseal trabecularization, Osteomalacia, A... ORPHA:93160
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Generalized bone demineralization, Rickets, Rickets of the lower limbs, Thin bony cortex, Delayed... OMIM:600785
Tuberculosis
Weight loss ORPHA:3389
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Dilation of lateral ventricles OMIM:619278
Allergic Bronchopulmonary Aspergillosis
Cerebral cortical atrophy, Abnormal eosinophil morphology, Weight loss ORPHA:1164
Pontocerebellar Hypoplasia, Type 13
Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Failure to thrive, Microcephaly, Dand... OMIM:618606
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture, Postnatal growth retardation OMIM:179800
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Growth delay, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, Fa... OMIM:600081
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Type II lissencephaly, Normal pressure hydrocephalus, Hypopla... ORPHA:300570
Fanconi Renotubular Syndrome 2
Rickets, Osteopenia, Short stature OMIM:613388
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, A... ORPHA:208447
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Neonatal death, Subependymal cysts, Dilation of lateral ventri... OMIM:610015
Dermatosparaxis Ehlers-Danlos Syndrome
Osteoporosis, Hiatus hernia, Rickets, Joint hyperflexibility, Scarring, Severe short stature, Ost... ORPHA:1901
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Multifocal cerebral white matter abnormalities, Dilation of lateral ventricles OMIM:600721
Moynahan Syndrome
Microcephaly, Cachexia ORPHA:2574
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Decreased body weight, Microcephaly, Agenesis of corpus c... OMIM:609053
Fanconi Renotubular Syndrome 3
Rickets, Growth delay, Short stature OMIM:615605
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dilation of lateral ventricles, Failure to t... ORPHA:488627
Huntington Disease-Like 1
Gliosis, Ventriculomegaly, Weight loss, Cerebral cortical atrophy, Abnormality of the basal ganglia ORPHA:157941
Slc35A2-Cdg
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter ... ORPHA:356961
Severe X-Linked Intellectual Disability, Gustavson Type
Dilation of lateral ventricles, Dilated fourth ventricle, Small for gestational age, Microcephaly... ORPHA:3078
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Failure to thrive, Short stature OMIM:611590
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Gliosis, Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy, Dilation of lateral ven... OMIM:607485
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Rickets, Postnatal growth retardation, Osteomalacia, Increased susceptibility ... ORPHA:289157
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly OMIM:618619
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Growth delay, Recurrent fractures, Thin bony cortex, Delayed e... OMIM:241530
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Ventriculomegaly, Dandy-Walker malformation, Abnormal c... ORPHA:397715
Idiopathic Achalasia
Weight loss ORPHA:930
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Growth delay, Reduced bone mineral density, Osteomalacia, Pathologic fr... ORPHA:157215
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed e... OMIM:300554
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Christianson Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy, Cachexia,... ORPHA:85278
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Growth delay, Recurrent fractures, Severe short stature, O... ORPHA:2176
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Rickets, Growth delay, Recurrent fractures, Thin bony cortex, Delayed epiphyse... OMIM:264700
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morpho... ORPHA:565624
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Rickets, Growth delay, Recurrent fractures, Thin bony cortex, Delayed epiphyse... OMIM:277440
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dilation of lateral ventricles ORPHA:420179
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Overweight, Frontal cortical atrophy, Hypoplasia of t... ORPHA:2822
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Growth delay ORPHA:89937
Cach Syndrome
Microcephaly, T2 hypointense thalamus, Cerebral atrophy, Dilation of lateral ventricles ORPHA:135
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia, Short stature OMIM:134600
Huntington Disease
Decreased body mass index, Abnormal cerebral white matter morphology, Cerebral atrophy, Weight lo... ORPHA:399
Erythrokeratodermia Variabilis
Microcephaly, Weight loss ORPHA:317
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly, Septo-optic d... OMIM:301043
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Microcephaly, Ventriculomegaly, Cachexia, Cerebral calcification ORPHA:1933
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Absent septum pellucidum, Microcephaly, Agenesis of corpus callosum OMIM:309801
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Dilation of lateral ventricles ORPHA:85290
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age, Short stature OMIM:616026
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Acute Myelomonocytic Leukemia
Eosinophilia, Weight loss ORPHA:517
Xfe Progeroid Syndrome
Microcephaly, Ventriculomegaly, Cachexia OMIM:610965
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral calcification, Abnor... ORPHA:1855
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Hypointensity of cerebral white matter on MRI, Weight loss, Cachexia, Leukoencepha... OMIM:603041
Glutaric Acidemia I
Failure to thrive, Dilation of lateral ventricles OMIM:231670
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets, Failure to thrive OMIM:560000
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Cerebral wh... ORPHA:572798
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Distal Monosomy 10Q
Cavum septum pellucidum, Failure to thrive, Spina bifida occulta, Microcephaly, Dilation of later... ORPHA:96148
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormal cerebral white matter morphology, Weight loss, Cachexia, Leukoencephalopathy ORPHA:298
Parkinson Disease 4, Autosomal Dominant
Lewy bodies, Weight loss OMIM:605543
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Osteomalacia, Enamel hypomineralization, Short stature, Osteoarthritis OMIM:307800
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Osteomalacia, Failure to thrive OMIM:227810
Chronic Hiccup
Weight loss ORPHA:396
Dent Disease 1
Rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal ossification, Sh... OMIM:300009
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Growth delay, En... ORPHA:289176
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Dysplastic corpus callo... OMIM:618820
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Hyperintensity of cerebral white matter on MRI, Thick corpus callosum... ORPHA:544488
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Cachexia ORPHA:97229
16Q24.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly ORPHA:261250
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcephaly, Periventricular l... ORPHA:293725
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Short stature OMIM:612089
Isaac Syndrome
Weight loss ORPHA:84142
Cystinosis
Rickets, Delayed puberty, Failure to thrive, Short stature ORPHA:213
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hypoplasia of the corpus callosum, Cerebral atrophy, Failure to thrive in infancy, Cachexia, Micr... OMIM:616801
Flynn-Aird Syndrome
Cerebral cortical atrophy, Cachexia, Cerebral calcification ORPHA:2047
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:618914
Celiac Disease, Susceptibility To, 1
Osteoporosis, Enamel hypoplasia, Rickets, Postnatal growth retardation, Weight loss, Delayed pube... OMIM:212750
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:248370
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Choroid plexus cyst, Polymicrogyria, Dilated t... OMIM:304050
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Dilation of lateral ventricles OMIM:612301
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Kohlschutter-Tonz Syndrome-Like
Overweight, Ventriculomegaly, Decreased body weight, Secondary microcephaly, Microcephaly, Dilati... OMIM:619229
Mulibrey Nanism
Cachexia ORPHA:2576
X-Linked Hypophosphatemia
Craniosynostosis, Disproportionate short stature, Cellulitis, Rickets, Growth delay, Generalized ... ORPHA:89936
Huntington Disease-Like 2
Weight loss OMIM:606438
Cog5-Cdg
Microcephaly, Diffuse cerebral atrophy, Cerebral white matter atrophy, Dilation of lateral ventri... ORPHA:263487
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Cavum septum pellucidum, Abnormal cerebral white matter morp... ORPHA:457279
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Classic Pantothenate Kinase-Associated Neurodegeneration
Eye of the tiger anomaly of globus pallidus, Weight loss ORPHA:216866
Fanconi-Bickel Syndrome
Rickets, Osteopenia, Growth delay, Failure to thrive ORPHA:2088
Hodgkin Lymphoma
Weight loss ORPHA:98293
Khan-Khan-Katsanis Syndrome
Microcephaly, Colpocephaly, Failure to thrive OMIM:618460
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Failure to thrive OMIM:607765
Neuropathy, Congenital Hypomyelinating, 3
Hypoplasia of the corpus callosum, Microcephaly, Cachexia OMIM:618186
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Microcephaly, Cachexia, Hydrocephalus ORPHA:220295
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Hypophosphatemic Rickets
Disproportionate short stature, Rickets, Craniofacial osteosclerosis, Odontodysplasia, Enthesitis... ORPHA:437
Pelizaeus-Merzbacher Disease
Cerebral cortical atrophy, Microcephaly, Cachexia, Failure to thrive in infancy ORPHA:702
Fibrous Dysplasia Of Bone
Osteolysis, Patchy reduction of bone mineral density, Rickets, Fibrous dysplasia of the bones, Os... ORPHA:249
6Q Terminal Deletion Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Obesity, Polymicrog... ORPHA:75857
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Rickets, Growth delay, Weight loss, Osteomalacia ORPHA:309031
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Joint laxity, Rickets, Growth delay, Reduced bone mineral density, Inguinal hernia... OMIM:613658
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Dilated third ventr... ORPHA:464738
Renpenning Syndrome
Microcephaly, Cachexia ORPHA:3242
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Weight loss ORPHA:3165
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Thymic Neuroendocrine Tumor
Pituitary prolactin cell adenoma, Weight loss, Pituitary null cell adenoma, Increased circulating... ORPHA:97289
Wilson Disease
Osteoporosis, Joint hypermobility, Chondrocalcinosis, Osteomalacia, Osteoarthritis OMIM:277900
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Mosaic Trisomy 1
Polymicrogyria, Agenesis of corpus callosum, Dilation of lateral ventricles ORPHA:1692
Hereditary Late-Onset Parkinson Disease
Cerebral cortical atrophy, Gliosis, Lewy bodies, Weight loss ORPHA:411602
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Multiple lipomas, Chondrocalcinosis OMIM:600740
Distal Renal Tubular Acidosis
Rickets, Growth delay, Reduced bone mineral density, Osteomalacia, Increased susceptibility to fr... ORPHA:18
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Mast Cell Sarcoma
Weight loss ORPHA:66661
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Follicular Lymphoma
Weight loss ORPHA:545
Mcdonough Syndrome
Cachexia ORPHA:2471
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hypoplasia of the corpus callosum, Microcephaly, Cachexia, Severe failure to thrive ORPHA:371364
Neu-Laxova Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Rickets, Flexion contracture, Osteomalacia, Int... ORPHA:2671
Pleural Mesothelioma
Weight loss ORPHA:50251
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Gm1 Gangliosidosis
Encephalomalacia, Abnormal cerebral white matter morphology, Failure to thrive, Weight loss ORPHA:354
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Gerstmann-Straussler Disease
Neurofibrillary tangles, Weight loss OMIM:137440
Hirschsprung Disease
Weight loss, Failure to thrive in infancy ORPHA:388
Weaver Syndrome
Dilation of lateral ventricles, Absent septum pellucidum OMIM:277590
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Whipple Disease
Cachexia, Hydrocephalus ORPHA:3452
Trisomy 18
Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Anencephaly, Cachexia... ORPHA:3380
Rhabdoid Tumor
Weight loss ORPHA:69077
Pfapa Syndrome
Weight loss ORPHA:42642
Rett Syndrome
Cerebral cortical atrophy, Secondary microcephaly, Cachexia OMIM:312750
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Obesity, Cerebral cortical atrophy, Microcephaly, Dilation of late... ORPHA:177907
Mccune-Albright Syndrome
Recurrent fractures, Aneurysmal bone cyst, Fibrous dysplasia of the bones, Osteomalacia, Polyosto... ORPHA:562
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Focal Myositis
Weight loss ORPHA:48918
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypoplasia of the corpus callosum, Colpocephaly, Cerebral white matter hypoplasia ORPHA:477993
Dent Disease
Rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal ossification, Sp... ORPHA:1652
Takayasu Arteritis
Weight loss ORPHA:3287
Infantile Krabbe Disease
Hypointensity of cerebral white matter on MRI, Abnormal periventricular white matter morphology, ... ORPHA:206436
Perry Syndrome
Weight loss ORPHA:178509
Late-Onset Isolated Acth Deficiency
Weight loss, Adrenocorticotropic hormone deficiency, Failure to thrive, Eosinophilia, Pituitary a... ORPHA:199299
Immunodeficiency 27A
Weight loss OMIM:209950
19Q13.11 Microdeletion Syndrome
Microcephaly, Cachexia, Failure to thrive ORPHA:217346
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia ORPHA:93941
Juvenile Amyotrophic Lateral Sclerosis
Microcephaly, Cachexia, Amyotrophic lateral sclerosis ORPHA:300605
8P23.1 Microdeletion Syndrome
Microcephaly, Weight loss, Obesity ORPHA:251071
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Acrodermatitis Enteropathica
Cerebral cortical atrophy, Failure to thrive, Weight loss ORPHA:37
X-Linked Creatine Transporter Deficiency
Microcephaly, Cachexia ORPHA:52503
Occipital Horn Syndrome
Osteoporosis, Hiatus hernia, Osteolysis, Synostosis of joints, Rickets, Joint hyperflexibility, A... ORPHA:198
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Fryns-Smeets-Thiry Syndrome
Microcephaly, Cachexia ORPHA:2058
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Kaposi Sarcoma
Weight loss ORPHA:33276
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Osteosarcoma
Weight loss ORPHA:668
Thymic Carcinoma
Weight loss ORPHA:99868
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Marburg Hemorrhagic Fever
Weight loss ORPHA:99826
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Igg4-Related Aortitis
Hypereosinophilia, Weight loss ORPHA:449400
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Eosinophilic Gastroenteritis
Eosinophilia, Weight loss ORPHA:2070
Silver-Russell Syndrome
Secondary microcephaly, Cachexia, Failure to thrive in infancy, Obesity ORPHA:813
Adrenocortical Carcinoma
Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss ORPHA:1501
Infantile Nephropathic Cystinosis
Rickets, Growth delay, Failure to thrive ORPHA:411629
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Weight loss ORPHA:97287
Rift Valley Fever
Weight loss ORPHA:319251
Leishmaniasis
Weight loss ORPHA:507
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
3-Hydroxy-3-Methylglutaric Aciduria
Microcephaly, Weight loss, Leukoencephalopathy ORPHA:20
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Growth delay, Weight loss, Osteomalacia, Increased susceptibility to fr... ORPHA:3337
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pachygyria, Dilation of lateral ventricles OMIM:263520
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Chronic Beryllium Disease
Weight loss ORPHA:133
Tetrasomy 12P
Cachexia ORPHA:884
Liposarcoma
Weight loss ORPHA:69078
Poems Syndrome
Increased circulating prolactin concentration, Weight loss ORPHA:2905
Bullous Pemphigoid
Weight loss ORPHA:703
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
X-Linked Intellectual Disability, Cabezas Type
Microcephaly, Cachexia, Obesity ORPHA:85293
Polyarteritis Nodosa
Weight loss ORPHA:767
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Familial Colorectal Cancer Type X
Weight loss, Pituitary adenoma ORPHA:440437
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal corpus callosum morphology, Failure to thrive, Secondary microcephaly, Abnormal lateral ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal corpus callosum morphology, Failure to thrive, Secondary microcephaly, Abnormal lateral ... ORPHA:353277
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Cap Polyposis
Weight loss ORPHA:160148
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Lynch Syndrome
Weight loss, Pituitary adenoma ORPHA:144
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Choreoacanthocytosis
Frontal cortical atrophy, Hypoplastic hippocampus, Weight loss, Cerebral cortical atrophy, Abnorm... ORPHA:2388
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Familial Hypocalciuric Hypercalcemia
Osteomalacia, Lipoma, Chondrocalcinosis ORPHA:405
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Joint hypermobility, Camptodactyly of finger, Rickets, Osteomalacia, Pathologi... OMIM:309000
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Hypoplasia of the corpus callosum, Abnormal cerebral white matter m... ORPHA:500150
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Generalized Pseudohypoaldosteronism Type 1
Weight loss, Failure to thrive in infancy ORPHA:171876
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Chromosome 1P36 Deletion Syndrome
Pachygyria, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral cortical atr... OMIM:607872
Yao Syndrome
Weight loss OMIM:617321
Fanconi Anemia
Spina bifida, Ventriculomegaly, Weight loss, Microcephaly, Hydrocephalus ORPHA:84
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Riddle Syndrome
Microcephaly, Abnormal cerebral white matter morphology, Weight loss ORPHA:420741
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Weight loss ORPHA:183
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:913
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Ppoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Weig... ORPHA:97278
Oculopharyngodistal Myopathy 1
Abnormal cerebral white matter morphology, Weight loss OMIM:164310
Short Syndrome
Weight loss ORPHA:3163
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Cachexia, Hydrocephalus ORPHA:2072
Cystinosis, Nephropathic
Rickets, Hypophosphatemic rickets, Growth delay, Failure to thrive in infancy, Delayed puberty, S... OMIM:219800
Nephroblastoma
Weight loss ORPHA:654
Congenital Disorder Of Glycosylation, Type Iim
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Dilation of lateral ventricles OMIM:300896
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Tsh-Secreting Pituitary Adenoma
Abnormality of the pituitary gland, Increased circulating gonadotropin level, Elevated circulatin... ORPHA:91347
Oromandibular Dystonia
Weight loss ORPHA:93958
Genitopatellar Syndrome
Microcephaly, Agenesis of corpus callosum, Colpocephaly OMIM:606170
Drug Rash With Eosinophilia And Systemic Symptoms
Eosinophilia, Weight loss ORPHA:139402
Felty Syndrome
Weight loss ORPHA:47612
Aredyld Syndrome
Cachexia ORPHA:1133
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Perry Syndrome
Weight loss OMIM:168605
Cystic Echinococcosis
Eosinophilia, Weight loss ORPHA:400
Polymyositis
Weight loss ORPHA:732
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Somatostatinoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Weig... ORPHA:97283
Vipoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Weig... ORPHA:97282
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Symptomatic Form Of Hemochromatosis Type 1
Weight loss ORPHA:465508
Fatal Familial Insomnia
Weight loss OMIM:600072
Grfoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Weig... ORPHA:97261
Ménétrier Disease
Weight loss ORPHA:2494
Rheumatoid Arthritis
Weight loss OMIM:180300
Cryptosporidiosis
Failure to thrive, Weight loss ORPHA:1549
Oculocerebrorenal Syndrome Of Lowe
Abnormal dental enamel morphology, Joint hyperflexibility, Atypical scarring of skin, Recurrent f... ORPHA:534
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteoporosis, Rickets, Severe short stature, Abnormally ossified vertebrae, Osteomalacia, Intraut... ORPHA:2636
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Wolman Disease
Cachexia ORPHA:75233
Refractory Celiac Disease
Weight loss ORPHA:398063
Glucagonoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Weig... ORPHA:97280
Pemphigus Vulgaris
Weight loss ORPHA:704
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Seckel Syndrome
Microcephaly, Cachexia ORPHA:808
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Weight loss ORPHA:98849
Pneumocystosis
Weight loss ORPHA:723
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Giant Cell Arteritis
Weight loss ORPHA:397
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss ORPHA:2126
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Primary Myelofibrosis
Cachexia ORPHA:824
Primary Intestinal Lymphangiectasia
Failure to thrive, Weight loss ORPHA:90362
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Beta-Ketothiolase Deficiency
Weight loss ORPHA:134
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Cockayne Syndrome
Gliosis, Cerebral atrophy, Subcortical white matter calcifications, Primary microcephaly, Basal g... ORPHA:191
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Igg4-Related Kidney Disease
Eosinophilia, Weight loss, Abnormality of the anterior pituitary ORPHA:449395
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Multiple Endocrine Neoplasia Type 1
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:652
Alveolar Echinococcosis
Eosinophilia, Weight loss ORPHA:284
Insulin-Resistance Syndrome Type B
Decreased body weight, Abnormality of body weight, Increased body weight, Weight loss ORPHA:2298
Budd-Chiari Syndrome
Weight loss ORPHA:131
Klatskin Tumor
Weight loss ORPHA:99978
Al Amyloidosis
Weight loss ORPHA:85443
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Abnormal corpus callosum mor... ORPHA:261537
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Schwartz-Jampel Syndrome
Microcephaly, Cachexia, Decreased body weight ORPHA:800
Hereditary Pheochromocytoma-Paraganglioma
Weight loss ORPHA:29072
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Polycythemia Vera
Weight loss ORPHA:729
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Abnormal corpus callosum mor... ORPHA:261552
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Marfan Syndrome
Meningocele, Cachexia, Slender build ORPHA:558
African Trypanosomiasis
Ventriculomegaly, Abnormal cerebral white matter morphology, Weight loss, Abnormal prolactin leve... ORPHA:3385
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Acute Adrenal Insufficiency
Failure to thrive, Weight loss ORPHA:95409
Nijmegen Breakage Syndrome
Microcephaly, Cachexia ORPHA:647
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Caroli Disease
Weight loss ORPHA:53035
Hermansky-Pudlak Syndrome
Weight loss ORPHA:79430
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Q Fever
Weight loss ORPHA:781
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Mucolipidosis Type Ii
Weight loss ORPHA:576
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Failure to thrive in infancy ORPHA:37042
Thyrotoxic Periodic Paralysis
Weight loss, Obesity ORPHA:79102
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Addison Disease
Failure to thrive, Weight loss ORPHA:85138
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Microsporidiosis
Cachexia, Weight loss ORPHA:2552
Familial Thrombocytosis
Weight loss ORPHA:71493
Dermatomyositis
Abnormal eosinophil morphology, Weight loss ORPHA:221
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Weight loss ORPHA:99885
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Erdheim-Chester Disease
Weight loss ORPHA:35687
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Abnormal calcification of the carpal bones, Failure to thrive in infanc... ORPHA:51608
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Jejunal Neuroendocrine Tumor
Weight loss ORPHA:100077
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Rat-Bite Fever
Weight loss ORPHA:31205
Reactive Arthritis
Weight loss ORPHA:29207
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Norrie Disease
Cerebral cortical atrophy, Abnormality of the diencephalon, Cachexia, Failure to thrive, Microcep... ORPHA:649
Granulomatosis With Polyangiitis
Weight loss ORPHA:900
Castleman Disease
Weight loss ORPHA:160
Parathyroid Carcinoma
Weight loss ORPHA:143
Pyomyositis
Weight loss ORPHA:764
Brucellosis
Failure to thrive, Small for gestational age, Weight loss ORPHA:1304
Pancreatoblastoma
Weight loss ORPHA:677
Multiple Myeloma
Weight loss ORPHA:29073
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Weight loss ORPHA:740
Nocardiosis
Weight loss ORPHA:31204
Hepatocellular Carcinoma
Weight loss ORPHA:88673
Behçet Disease
Weight loss ORPHA:117
Malt Lymphoma
Weight loss ORPHA:52417
Juvenile Polyposis Of Infancy
Cachexia ORPHA:79076
Cushing Syndrome Due To Ectopic Acth Secretion
Truncal obesity, Weight loss ORPHA:99889
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Weight loss ORPHA:90794
Sarcoidosis, Susceptibility To, 1
Weight loss OMIM:181000
Stickler Syndrome
Slender build, Cachexia ORPHA:828
Sarcoidosis
Eosinophilia, Weight loss ORPHA:797
Kikuchi-Fujimoto Disease
Weight loss ORPHA:50918
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921
Camurati-Engelmann Disease
Slender build, Cachexia ORPHA:1328
Proteus Syndrome
Cachexia ORPHA:744
Tropical Endomyocardial Fibrosis
Cachexia, Eosinophilia ORPHA:75565
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
Goodpasture Syndrome
Weight loss OMIM:233450

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 Id4

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 Id4.

No publications found that use IMPC mice or data for Id4.

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MGI Allele Allele Type Produced
Id4tm413877(Ifitm2_intron_L1L2_Bact_P) Targeting vectors

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