Gene Summary

NEL-like 1
l7R6,  B230343H07Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.

Phenotype System Allele Zyg Sex Life Stage P Value
small kidney Nell1em1(IMPC)Mbp HOM Early adult 0.00
decreased mean corpuscular hemoglobin Nell1em1(IMPC)Mbp HOM Early adult 5.57×10-09
cataract Nell1em1(IMPC)Mbp HOM   Early adult 2.67×10-05

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Viewing: all phenotypes

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.


XRay Images Whole Body Dorso Ventral

30 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Nell1 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 Nell1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Os odontoideum, Spondylolisthesis at L5-S1, Atlantoaxial instability, Ankle clonus... OMIM:600561
Aniridia 3
Cataract OMIM:617142
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Stillbirth OMIM:265880
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Nemaline Myopathy 9
Micrognathia, Scoliosis, Arthrogryposis multiplex congenita, Respiratory insufficiency OMIM:615731
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Micrognathia, Respiratory insufficiency due to muscle weakness, Arthrogryposis multiplex congenit... OMIM:618291
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Respiratory insufficiency, Platyspondyly, Knee flexion contracture, Kyphosis, En... OMIM:313420
Congenital Arthrogryposis With Anterior Horn Cell Disease
Micrognathia, Neonatal death, Respiratory insufficiency due to muscle weakness, Arthrogryposis mu... OMIM:611890
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Lethal Osteosclerotic Bone Dysplasia
Micrognathia, Mandibular aplasia, Respiratory distress, Dyspnea, Retrognathia, Respiratory failur... ORPHA:1832
Cataract OMIM:190330
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Metatropic Dysplasia
Respiratory insufficiency, Long coccyx, Arthrogryposis multiplex congenita, Platyspondyly, Kyphos... OMIM:156530
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory insufficiency, Respiratory failure, Respiratory distress, Camptodactyly of finger, Re... OMIM:614399
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Galactosemia Ii
Galactosuria, Cataract OMIM:230200
Nathalie Syndrome
Cataract ORPHA:2663
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Cataract OMIM:273680
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Distal arthrogryposis, Arthrogryposis multiplex congenita, Respiratory insuf... OMIM:208081
Congenital Muscular Dystrophy, Ullrich Type
Micrognathia, Knee flexion contracture, Kyphosis, Hip dislocation, Spinal rigidity, Respiratory f... ORPHA:75840
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Limited elbow flexion, Abnormal respiratory system physiology, Respiratory insufficiency, Reduced... ORPHA:266
Galactosemia Iv
Cataract OMIM:618881
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hyperekplexia 4
Distal arthrogryposis, Kyphoscoliosis, Flexion contracture, Camptodactyly, Respiratory failure OMIM:618011
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Decreased cervical spine mobility, Spinal deformities, Hip dislocation... ORPHA:370968
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
X-Linked Retinoschisis
Cataract ORPHA:792
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Achilles tendon contracture, Spinal rigidity OMIM:604801
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in muscle tissue, Respiratory insufficiency, Ectopic ossification in ligamen... OMIM:135100
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Flexion contracture OMIM:616081
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract OMIM:615995
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy, Microcephaly, Congenital contracture OMIM:225753
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency OMIM:611722
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weakness, Tremor, Respira... ORPHA:2590
Rigid Spine Syndrome
Hip contracture, Pneumonia, Respiratory insufficiency, Hamstring contractures, Spinal rigidity, H... ORPHA:97244
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:254875
Multiple Epiphyseal Dysplasia Type 5
Abnormal acetabulum morphology, Abnormal hip joint morphology, Delayed proximal femoral epiphysea... ORPHA:93311
Vacterl Association With Hydrocephalus
Abnormality of the vertebral column, Respiratory insufficiency, Radial club hand, Abnormal verteb... OMIM:276950
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Cough, Tremor, Respiratory failure, Dyspnea, Respiratory failure requiring assisted ventilation, ... ORPHA:90117
Nemaline Myopathy 8
Respiratory failure, Death in infancy, Flexion contracture OMIM:615348
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency, Flexion contracture OMIM:613869
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Atelosteogenesis, Type Ii
Micrognathia, Death in infancy, Increased intervertebral space, Coronal cleft vertebrae, Horizont... OMIM:256050
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Arthrogryposis multiplex congenita, Retrognathia, Respiratory failure,... OMIM:615330
Rhizomelic Chondrodysplasia Punctata, Type 1
Micrognathia, Coronal cleft vertebrae, Respiratory insufficiency, Epiphyseal stippling, Kyphoscol... OMIM:215100
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal deformities, Respiratory insufficiency due to muscle weakness, Kyphosis, Spinal rigidity, ... ORPHA:352447
Kyphosis, Progressive microcephaly, Limitation of joint mobility, Respiratory failure, Scoliosis ORPHA:79327
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Respiratory distress, Respiratory failure, ... ORPHA:2759
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency OMIM:253300
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Tremor, Respiratory failure, Secondary microcephaly OMIM:617248
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Aniridia 2
Aniridia, Cataract OMIM:617141
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Spondylolysis, Micrognathia, Respiratory insufficiency, Delayed clo... OMIM:304120
Hypophosphatasia, Adult
Carious teeth, Chondrocalcinosis, Rickets, Increased susceptibility to fractures, Pathologic frac... OMIM:146300
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Respiratory insufficiency, Fusion of midcervical facet joints, Cervical vertebral bodies with dec... OMIM:606842
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Apnea, Arthrogryposis multiplex congenita, Genu recurvatum, Exaggerated startle ... OMIM:617301
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency, Hypoventilation, Hyperlordosis, Flexion contracture, Respiratory failu... OMIM:310200
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in muscle tissue, Respiratory insufficiency, Abnormal vertebral morphology, ... ORPHA:337
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Neonatal death, Apnea, Respiratory failure, Microcephaly OMIM:610127
Nathalie Syndrome
Cataract OMIM:255990
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory failure, Micrognathia, Respiratory insufficiency, Neonatal death OMIM:228940
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Biconcave flattened vertebrae, Increased susceptibility to fractures, Wormian bones... OMIM:166220
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure, Retrognathia, Flexion contracture, Camptodactyly of finger... ORPHA:1194
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Reduced v... ORPHA:98913
Sandestig-Stefanova Syndrome
Primary microcephaly, Respiratory failure, Retrognathia, Camptodactyly, Prominent metopic ridge, ... OMIM:618804
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Proximal renal tubular acidosis, Band keratopathy, Cataract, Bicarbonate-wasting renal tubular ac... OMIM:604278
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Tremor OMIM:618637
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Intention tremor, Tremor, Flexion contracture, Respiratory failure, Scoliosis OMIM:616505
Crisponi Syndrome
Micrognathia, Death in infancy, Respiratory insufficiency, Kyphosis, Limitation of joint mobility... ORPHA:1545
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Genu varum, Abnormal form of the vertebral bodies, Joint dislocation, Abnormal bone st... ORPHA:93160
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Generalized osteosc... ORPHA:210110
Bruck Syndrome
Respiratory insufficiency, Osteoporosis, Arthrogryposis multiplex congenita, Platyspondyly, Wormi... ORPHA:2771
Cataract 11, Multiple Types
Cataract OMIM:610623
Dermatosparaxis Ehlers-Danlos Syndrome
Micrognathia, Abnormal joint morphology, Rickets, Osteoporosis, Joint dislocation, Osteopenia, Hi... ORPHA:1901
Proximal Myotonic Myopathy
Cataract ORPHA:606
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Neonatal respiratory distress, Recurrent aspiration pneumonia, In... ORPHA:70
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Cataract ORPHA:2278
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Intermediate Nemaline Myopathy
Respiratory failure, Arthrogryposis multiplex congenita, Multiple prenatal fractures, Flexion con... ORPHA:171433
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Vertebral fusion, Intervertebral disc degeneration, Arthritis, Kyphosis, Limited hip movement, Li... OMIM:203500
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Hypochromic anemia OMIM:257790
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Caffey Disease
Cortical thickening of long bone diaphyses, Respiratory insufficiency, Periosteal thickening of l... ORPHA:1310
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory failure, Wide anterior fontanel, Cardiorespiratory arrest, Hyperlordosis, Restrictive... ORPHA:26791
Arthrogryposis Multiplex Congenita 6
Death in infancy, Neonatal death, Arthrogryposis multiplex congenita, Death in childhood, Respira... OMIM:619334
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Central sleep apnea, Respiratory failure, Microcephaly ORPHA:168486
Radio-Renal Syndrome
Micrognathia, Abnormality of the elbow, Abnormal form of the vertebral bodies, Respiratory distre... ORPHA:3015
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Autosomal Recessive Hypophosphatemic Rickets
Polyarticular arthritis, Spinal canal stenosis, Genu varum, Enlargement of the wrists, Abnormal s... ORPHA:289176
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Sillence Syndrome
Abnormal vertebral morphology, Intervertebral disc degeneration, Platyspondyly, Back pain, Scolio... ORPHA:3168
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Galactose Epimerase Deficiency
Aminoaciduria, Cataract, Splenomegaly ORPHA:79238
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:605711
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Arthrogryposis multiplex congenita, Multiple prenatal fractures, F... OMIM:616867
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Iris hypopigmentation, Cataract, Thrombocytopenia ORPHA:67048
Asymmetric Short Stature Syndrome
Micrognathia, Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Stridor, Obstructive sleep apnea, Respiratory failure, Scoliosis OMIM:606071
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Death in infancy, Respiratory insufficiency, Neonatal death, Death... OMIM:245400
Asbestos Intoxication
Wheezing, Restrictive ventilatory defect, Hypoxemia, Exertional dyspnea, Dyspnea, Late inspirator... ORPHA:2302
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria, Cataract OMIM:120433
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Micrognathia, Fractures of the long bones, Arthrogryposis multiplex congenita, Congenital hip dis... ORPHA:496641
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Thin bony cortex, Generalized bone demineralization, Rickets, Delayed epiphyseal ossi... OMIM:600785
Retinitis Pigmentosa 84
Cataract OMIM:618220
Cataract 43
Subcapsular cataract OMIM:616279
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Osteopetrosis, Autosomal Recessive 5
Micrognathia, Osteopetrosis, Stillbirth, Respiratory failure, Microcephaly OMIM:259720
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Micrognathia, Hypoxemia, Intercostal muscle weakness, Hip contracture,... ORPHA:2020
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Sinusitis, Arthralgia/arthritis, Bronchial breath sound, Abnormal respiratory system physiology, ... ORPHA:449280
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Hematuria, Iris coloboma, Corneal opacity, Cataract ORPHA:1473
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio, Nephritis, Stage 5 chronic kidney disease OMIM:609057
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Thin bony cortex, Rickets, Enlargement of the wrists, Delayed epiphyseal ossificat... OMIM:277440
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertension, Aspirati... ORPHA:258
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Micropenis, Methemoglobinemia OMIM:250790
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Micrognathia, Arthrogryposis multiplex congenita OMIM:607598
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Rickets, Enlargement of the wrists, Delayed epiphyseal ossification, Delayed er... OMIM:264700
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney, Cataract OMIM:613730
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Tachypnea, Ventilator dependence with inability to wean, Camptodactyly of finger, Respiratory fai... OMIM:604320
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia ORPHA:848
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae ORPHA:1436
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Ankle flexion contracture, Stridor, Partial fusion of c... OMIM:305620
Pellagra-Like Syndrome
Cataract OMIM:260650
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Thin bony cortex, Rickets, Enlargement of the wrists, Increased susceptibility to fra... ORPHA:289157
Myopathy, Centronuclear, X-Linked
Respiratory failure, Neonatal respiratory distress, Respiratory failure requiring assisted ventil... OMIM:310400
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Obstructive sleep apnea, Central sleep apnea ORPHA:70472
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Rickets, Enlargement of the wrists, Delayed epiphyseal ossification, Widely pat... OMIM:600081
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Neu-Laxova Syndrome
Micrognathia, Pterygium, Opisthotonus, Rickets, Osteoporosis, Arthrogryposis multiplex congenita,... ORPHA:2671
Fibrous Dysplasia Of Bone
Thin bony cortex, Fibrous dysplasia of the bones, Rickets, Abnormal bone structure, Abnormality o... ORPHA:249
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Enamel hypomineralization, Osteomalacia, Osteoarthritis, Hypophosphatemic ... OMIM:307800
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Achilles tendon contracture, Nocturnal hypoventilation, Reduced vital capacity OMIM:603689
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae OMIM:309620
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... ORPHA:36238
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Acute infecti... ORPHA:723
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Pneumonia, Flexion contracture, Respiratory failure, Scol... ORPHA:98905
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
X-Linked Hypophosphatemia
Genu varum, Sacroiliac joint synovitis, Rickets, Vertebral hyperostosis, Generalized osteoscleros... ORPHA:89936
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Ankle clonus OMIM:613954
Oculocerebrofacial Syndrome, Kaufman Type
Micrognathia, Respiratory distress, Retrognathia, Respiratory failure, Dyspnea, Microcephaly ORPHA:2707
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Respiratory insufficiency OMIM:600333
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy, Opisthotonus, Microcephaly OMIM:610678
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Respiratory distress, Respiratory failure, Cough OMIM:263000
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Tremor ORPHA:363400
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Rickets, Enlargement of the wrists, Delayed epiphyseal ossification, Widely pat... OMIM:241530
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Antecubital pterygium, Fused cervical vertebrae, Short neck, Flexion contractu... OMIM:618469
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Aneurysm-Osteoarthritis Syndrome
Knee osteoarthritis, Osteoporosis, Intervertebral disc degeneration, Osteoarthritis of the small ... ORPHA:284984
Leigh Syndrome
Respiratory failure, Respiratory insufficiency, Abnormal pattern of respiration OMIM:256000
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micrognathia, Abnormal intervertebral disk morphology, Rickets, Osteoporosis, Abnormal form of th... ORPHA:2636
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific interstitial pneumonia, T... OMIM:610921
Acute Interstitial Pneumonia
Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Decreased DLCO, Nonproductive cough, Respiratory ... ORPHA:79126
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Rickets, Enlargement of the wrists, Delayed epiphyseal ossification, Recurrent ... OMIM:300554
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chronic kidney disease, Anteri... OMIM:203780
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy, Epiphyseal stippling OMIM:614862
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Short Rib-Polydactyly Syndrome
Absent or minimally ossified vertebral bodies, Abnormal pelvis bone ossification, Abnormal hand b... ORPHA:1505
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Polycystic kidney dysplasia, Cataract OMIM:263100
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Spinocerebellar Ataxia Type 1
Respiratory failure, Postural tremor ORPHA:98755
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency, Microcephaly OMIM:609981
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Epiphyseal stippling, Camptodactyly, Restrictive ventilatory defect, Respiratory failure, Hypopla... ORPHA:96334
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... OMIM:610913
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Central hypoventilation, Apnea OMIM:619483
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Death in infancy, Tachypnea, Neonatal death, Pulmonary arterial hy... OMIM:265120
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Peroxisome Biogenesis Disorder 10B
Cataract, Neurogenic bladder, Nephrocalcinosis OMIM:617370
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Wrist flexion contracture, Respiratory failure, Flexion contracture, Camptodactyly, Flexion contr... ORPHA:254528
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Osteoporosis, Exerti... ORPHA:365
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Non... ORPHA:454836
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Respiratory insufficiency, Elbow flexion contracture, Apnea, Knee flexion contracture, Respirator... OMIM:608836
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Dyspnea ORPHA:178320
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Respiratory failure, Nasal flaring, Atelectasis ORPHA:70587
Rajab Interstitial Lung Disease With Brain Calcifications 1
Thin bony cortex, Respiratory insufficiency, Rickets, Tachypnea, Cough, Reduced bone mineral dens... OMIM:613658
Myhre Syndrome
Vertebral fusion, Respiratory insufficiency, Mandibular prognathia, Platyspondyly, Enlarged verte... OMIM:139210
Infantile Systemic Hyalinosis
Increased susceptibility to fractures, Osteoporosis, Osteopenia, Short neck, Recurrent fractures,... ORPHA:2176
Ear-Patella-Short Stature Syndrome
Micrognathia, Patellar aplasia, Mandibular aplasia, Craniosynostosis, Elbow dislocation, Joint hy... ORPHA:2554
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Central hypoventilation, Apnea OMIM:618233
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Hypophosphatemic rickets, Rickets OMIM:193100
Severe Congenital Nemaline Myopathy
Respiratory failure, Arthrogryposis multiplex congenita, Multiple prenatal fractures, Flexion con... ORPHA:171430
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Tooth abscess, Rickets ORPHA:89937
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Death in infancy, Tremor OMIM:617186
Arterial Tortuosity Syndrome
Craniosynostosis, Hip dislocation, Respiratory distress, Cardiorespiratory arrest, Respiratory fa... ORPHA:3342
Costello Syndrome
Micrognathia, Respiratory insufficiency, Obstructive sleep apnea, Pneumothorax, Achilles tendon c... OMIM:218040
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Cough, Respiratory failure, Dyspnea ORPHA:99931
Mccune-Albright Syndrome
Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Aneurysmal bone cyst, Monostotic f... ORPHA:562
Norrie Disease
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris OMIM:310600
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Abnormal blood gas level, Respiratory failure, Dyspnea ORPHA:70578
Peripartum Cardiomyopathy
Paroxysmal dyspnea, Crackles, Pulmonary arterial hypertension, Exertional dyspnea, Orthopnea, Ast... ORPHA:563
Cholestasis, Progressive Familial Intrahepatic, 1
Wheezing, Epistaxis, Osteopenia, Rickets OMIM:211600
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chro... ORPHA:244
Pulmonary Alveolar Microlithiasis
Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, Bronchiectasis, Tachypnea, ... ORPHA:60025
Dent Disease 1
Thin bony cortex, Rickets, Enlargement of the wrists, Delayed epiphyseal ossification, Osteomalac... OMIM:300009
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Lens subluxation ORPHA:171844
Hartsfield Syndrome
Hypoplasia of the frontal bone, Craniosynostosis, Microcephaly OMIM:615465
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets OMIM:613388
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure OMIM:615838
Renal Dysplasia-Limb Defects Syndrome
Micrognathia, Pneumothorax, Neonatal death, Respiratory distress, Respiratory failure, Short neck OMIM:266910
Hypophosphatemic Bone Disease
Osteomalacia, Rickets OMIM:146350
Loeys-Dietz Syndrome 3
Hip osteoarthritis, Pneumothorax, Knee osteoarthritis, Craniosynostosis, Intervertebral disc dege... OMIM:613795
Atypical Werner Syndrome
Micrognathia, Chondrocalcinosis, Osteoporosis, Intervertebral disc degeneration, Sclerosis of han... ORPHA:79474
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Mercury Poisoning
Interstitial pneumonitis, Tremor, Respiratory distress, Respiratory failure, Dyspnea ORPHA:330021
Snakebite Envenomation
Respiratory failure, Epistaxis, Respiratory paralysis ORPHA:449285
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Proximal tubulopathy, Splenomegaly, Persistence of hemoglobi... ORPHA:231222
Wilson Disease
Chondrocalcinosis, Osteoporosis, Joint hypermobility, Tremor, Osteomalacia, Osteoarthritis OMIM:277900
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Lowe Oculocerebrorenal Syndrome
Wrist swelling, Rickets, Joint contracture of the hand, Platyspondyly, Pathologic fracture, Joint... OMIM:309000
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal cyst, Nephrolithiasis, Stage 5 chronic kidney disease, ... OMIM:120330
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Lethal Acantholytic Erosive Disorder
Respiratory failure, Natal tooth, Camptodactyly of toe ORPHA:158687
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Paroxysmal dyspnea, Stridor ORPHA:444013
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax, Opisthotonus, Primary microcephaly ORPHA:445038
Riddle Syndrome
Pneumonia, Chronic sinusitis, Arthritis, Respiratory failure, Recurrent pneumonia, Restrictive ve... ORPHA:420741
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Pulmonary arterial hypertension, Intention tremor, Respiratory dis... ORPHA:209905
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure, Head titubation, Vestibular areflexia ORPHA:3240
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, HbH hemoglobin, Microcytic anemia ORPHA:98791
Infantile Krabbe Disease
Respiratory failure, Respiratory distress, Opisthotonus, Ankle clonus ORPHA:206436
Amyotrophic Lateral Sclerosis
Respiratory failure, Dyspnea, Abnormal respiratory system physiology ORPHA:803
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Hypercholanemia, Familial 1
Rickets OMIM:607748
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Osteomalacia, Hypophosphatemic rickets, Pathologic fracture ORPHA:157215
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Renal Tubular Acidosis Iii
Osteomalacia, Rickets OMIM:267200
Blackfan-Diamond Anemia
Hypospadias, Horseshoe kidney, Developmental cataract, Thrombocytosis, Neutropenia, Elevated red ... ORPHA:124
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Death in infancy, Abnormal dental enamel morphology, Delayed eruption of teeth, Os... ORPHA:534
Occipital Horn Syndrome
Rickets, Osteoporosis, Platyspondyly, Osteopenia, Synostosis of joints, Kyphosis, Hip dislocation... ORPHA:198
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Sclerocornea, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Car T Cell Therapy-Associated Cytokine Release Syndrome
Respiratory failure, Hypoxemia, Tachypnea, Pleural effusion ORPHA:542323
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:613845
Respiratory failure, Kyphoscoliosis, Osteopenia ORPHA:14
Leigh Syndrome With Cardiomyopathy
Respiratory failure, Respiratory distress, Central hypoventilation, Apnea ORPHA:70474
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Stiff neck, Pneumonia, Back pain, Septic arthritis, Osteomyelitis, Respiratory distress, Tremor, ... ORPHA:533
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Hematuria, Stage 5 chronic kidney disease, Anterior lenticonus, Lentic... OMIM:308940
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Atelosteogenesis Type Iii
Knee dislocation, Micrognathia, Laryngotracheomalacia, Coronal cleft vertebrae, Respiratory insuf... ORPHA:56305
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets OMIM:611590
Fanconi Renotubular Syndrome 1
Osteomalacia, Rickets OMIM:134600
Combined Oxidative Phosphorylation Deficiency 3
Respiratory failure, Tremor, Respiratory insufficiency, Death in childhood OMIM:610505
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture OMIM:179800
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... ORPHA:231214
Boutonneuse Fever
Respiratory failure ORPHA:83313
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... ORPHA:231226
Respiratory failure, Stiff neck, Respiratory failure requiring assisted ventilation ORPHA:2912
Isolated Exencephaly
Hypoplasia of the frontal bone ORPHA:563612
Nijmegen Breakage Syndrome
Recurrent pneumonia, Retrognathia, Respiratory failure, Short neck, Microcephaly ORPHA:647
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Titubation ORPHA:280210
Leigh Syndrome
Multiple joint contractures, Respiratory failure, Abnormal pattern of respiration ORPHA:506
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the maxilla, Hypoplasia of the frontal bone, Camptodactyly of finger ORPHA:306542
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure, Microcephaly ORPHA:88618
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency OMIM:609015
Dent Disease
Thin bony cortex, Rickets, Enlargement of the wrists, Delayed epiphyseal ossification, Osteomalac... ORPHA:1652
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, HbH h... OMIM:141750
Hypophosphatemic Rickets
Fibrous dysplasia of the bones, Rickets, Hyperostosis, Tooth abscess, Patchy variation in bone mi... ORPHA:437
Shwachman-Diamond Syndrome 1
Neutropenia, Nephrocalcinosis, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancy... OMIM:260400
Ulbright-Hodes Syndrome
Ovoid thoracolumbar vertebrae, Micrognathia, Pneumothorax, Respiratory distress, Respiratory fail... ORPHA:3404
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Metopic synostosis, Hemivertebrae, Hyperextensible hand joints, Kyphoscoliosis, Sagittal craniosy... ORPHA:500150
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Microphthalmia With Linear Skin Defects Syndrome
Micrognathia, Mandibular aplasia, Abnormal dental enamel morphology, Respiratory distress, Sacral... ORPHA:2556
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory failure, Hypercapnia, Respiratory insufficiency OMIM:267480
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Secondary microcephaly, Respiratory insufficiency OMIM:618329
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:308552
Severe Generalized Junctional Epidermolysis Bullosa
Stridor, Pneumonia, Pneumothorax, Osteoporosis, Respiratory distress, Enamel hypoplasia, Respirat... ORPHA:79404
Rickets ORPHA:213
Bloom Syndrome
Micrognathia, Chronic pulmonary obstruction, Pneumonia, Rhinitis, Retrognathia, Respiratory failure ORPHA:125
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Osteoporosis, Rickets OMIM:212750
Productive cough, Pneumonia, Pneumothorax, Osteomyelitis, Respiratory distress, Nonproductive cou... ORPHA:31204
Imbalanced hemoglobin synthesis, Leukemia, Pure red cell aplasia, Glomerulonephritis, Aplastic an... ORPHA:99867
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypospadias, Reduced alpha/beta synthesis ratio, Hydronephrosis, Hypochromic microcytic anemia, M... OMIM:301040
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Epistaxis, Cough, Back pain, Respiratory distress, Respiratory failure, Dyspnea, Pleur... ORPHA:340
Geleophysic Dysplasia 3
Respiratory failure, Pneumonia, Dyspnea, Sleep apnea OMIM:617809
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Respiratory insufficiency, Apnea, Respiratory failure, Microcephaly OMIM:252010
Fanconi-Bickel Syndrome
Osteopenia, Rickets ORPHA:2088
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Congenital Bile Acid Synthesis Defect Type 2
Rickets ORPHA:79303
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... ORPHA:91495
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... OMIM:612109
Congenital Tricuspid Valve Dysplasia
Tachypnea, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:555874
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Niemann-Pick Disease, Type C2
Respiratory failure, Respiratory insufficiency OMIM:607625
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Hydronephrosis, Hypoplasia of penis, Abnormal hemoglobin ORPHA:847
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Distal Renal Tubular Acidosis
Rickets, Increased susceptibility to fractures, Respiratory insufficiency due to muscle weakness,... ORPHA:18
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Chondrocalcinosis OMIM:600740
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Iron deficiency anemia, Cataract, Band keratopathy, Keratoconjunctivitis OMIM:269200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Malignant Atrophic Papulosis
Respiratory failure, Pleural effusion ORPHA:679
Fanconi-Bickel Syndrome
Osteomalacia OMIM:227810
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Renal tubular dysfunction, Tubuloint... ORPHA:330015
Frontofacionasal Dysplasia
Hypoplasia of the frontal bone OMIM:229400
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Bickerstaff Brainstem Encephalitis
Pneumonia, Hypercapnia, Respiratory failure, Dyspnea, Respiratory failure requiring assisted vent... ORPHA:79138
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets ORPHA:309031
Autosomal Recessive Polycystic Kidney Disease
Micrognathia, Hypoventilation, Recurrent pneumonia, Spontaneous pneumothorax, Respiratory failure ORPHA:731
Niemann-Pick Disease Type C
Respiratory insufficiency, Intention tremor, Tremor, Respiratory failure, Aspiration pneumonia ORPHA:646
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Abnormal hip joint morphology, Stippled calcification... ORPHA:51608
Steinert Myotonic Dystrophy
Respiratory insufficiency, Obstructive sleep apnea, Respiratory insufficiency due to muscle weakn... ORPHA:273
Cystinosis, Nephropathic
Genu valgum, Hypophosphatemic rickets, Rickets OMIM:219800
Familial Hypocalciuric Hypercalcemia
Osteomalacia, Chondrocalcinosis ORPHA:405
Infantile Nephropathic Cystinosis
Rickets ORPHA:411629
Tuberous Sclerosis Complex
Respiratory failure, Respiratory distress ORPHA:805
Primary Fanconi Renotubular Syndrome
Increased susceptibility to fractures, Osteomalacia, Hypophosphatemic rickets ORPHA:3337
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Bronchiectasis, Arthritis, Osteomyelitis, Osteomalacia, Joint swelling OMIM:619381


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 Nell1

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 Nell1.

No publications found that use IMPC mice or data for Nell1.

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MGI Allele Allele Type Produced
Nell1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Nell1tm43045(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nell1tm43045(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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