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Gene: Pbx3 MGI:97496

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Gene Summary

Name:
pre B cell leukemia homeobox 3
Synonyms:
N/A

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal response to new environment Pbx3tm1a(EUCOMM)Wtsi HET Early adult 7.94×10-05
increased bone mineral content Pbx3tm1a(EUCOMM)Wtsi HOM Early adult 4.79×10-05
decreased total body fat amount Pbx3tm1b(EUCOMM)Wtsi HET   Early adult 5.19×10-05
abnormal tooth morphology Pbx3tm1b(EUCOMM)Wtsi HET Early adult 1.50×10-07
increased bone mineral density Pbx3tm1a(EUCOMM)Wtsi HOM Early adult 3.07×10-05
increased lean body mass Pbx3tm1a(EUCOMM)Wtsi HOM Early adult 2.73×10-08
increased circulating bilirubin level Pbx3tm1b(EUCOMM)Wtsi HET Early adult 3.46×10-05
abnormal bone mineralization Pbx3tm1a(EUCOMM)Wtsi HOM Early adult 4.78×10-05
decreased blood urea nitrogen level Pbx3tm1b(EUCOMM)Wtsi HET Early adult 5.78×10-05
increased total body fat amount Pbx3tm1a(EUCOMM)Wtsi HOM Early adult 3.02×10-05
preweaning lethality, complete penetrance Pbx3tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
absent ovary Pbx3tm1b(EUCOMM)Wtsi HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 50% (1 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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Echo

M-Mode Images

28 Images

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Adult LacZ

LacZ Images Wholemount

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Download thumbnail Download
MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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Human diseases caused by Pbx3 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 Pbx3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Major Depressive Disorder
Depression OMIM:608516
Major Affective Disorder 1
Mania, Depression OMIM:125480
7q11.23 duplication syndrome
Short attention span DECIPHER:43
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Buschke-Ollendorff Syndrome
Connective tissue nevi, Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Melorheostosis With Osteopoikilosis
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Failure to thrive, Clavicular sclerosis OMIM:615198
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Hypoventilation, Breathing dysregulation OMIM:618232
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Melorheostosis
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Hyperostosis, Arthrit... ORPHA:2485
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Amelogenesis Imperfecta
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... ORPHA:88661
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Edinburgh Malformation Syndrome
U-Shaped upper lip vermilion, Neonatal hyperbilirubinemia OMIM:129850
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Perry Syndrome
Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency OMIM:168605
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Postpoliomyelitis Syndrome
Hypoventilation, Respiratory insufficiency ORPHA:2942
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Breath-Holding Spells
Cyanosis OMIM:607578
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the dentition, Cryptorchidi... ORPHA:3363
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia OMIM:620010
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Ullrich Congenital Muscular Dystrophy 2
Nocturnal hypoventilation OMIM:616470
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Perry Syndrome
Central hypoventilation ORPHA:178509
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Oligodontia
Orofacial cleft, Agenesis of mandibular premolar, Oligodontia, Widely spaced teeth, Microdontia, ... ORPHA:99798
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation OMIM:209880
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Thin upper lip vermilion, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoosperm... ORPHA:2232
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Death in infancy, Apnea, Central hypoventilation OMIM:620167
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... OMIM:211530
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea OMIM:617143
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ... OMIM:620296
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Limb-Mammary Syndrome
Absent nipple, Cleft hard palate, Cleft lip, Cleft palate, Bilateral breast hypoplasia, Breast ap... ORPHA:69085
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... ORPHA:2228
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Hypomature enamel, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Amel... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta OMIM:615887
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Haddad Syndrome
Death in infancy, Central hypoventilation, Breathing dysregulation ORPHA:99803
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Ganglioneuroma
Central hypoventilation ORPHA:251992
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoventilation, Death in infancy OMIM:620275
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor... ORPHA:261529
Classic Multiminicore Myopathy
Intermittent episodes of respiratory insufficiency due to muscle weakness, Restrictive ventilator... ORPHA:324604
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Congenital Myopathy 3 With Rigid Spine
Restrictive ventilatory defect, Reduced vital capacity, Nocturnal hypoventilation OMIM:602771
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Reduced forced vital capacity, Restrictive ventilatory defect, Nocturnal hypoventilation OMIM:607155
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta OMIM:104510
Hypercholanemia, Familial 1
Failure to thrive, Rickets OMIM:607748
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death OMIM:611890
Ullrich Congenital Muscular Dystrophy 1
Nocturnal hypoventilation, Respiratory insufficiency due to muscle weakness, Respiratory insuffic... OMIM:254090
Biliary Atresia, Extrahepatic
Atretic gallbladder, Bile duct proliferation, Unconjugated hyperbilirubinemia, Hyperbilirubinemia... OMIM:210500
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Leopard Syndrome 1
Mandibular prognathia, Hypospadias, Cryptorchidism, Cleft palate, Hypoplasia of the ovary, Aplasi... OMIM:151100
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures OMIM:166260
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Scarring alopecia of scalp, Dental enamel pits OMIM:619787
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... ORPHA:2257
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Increased bone mineral density, Recurrent fractures OMIM:611490
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Hernia, Hiatus hernia ORPHA:101009
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... ORPHA:258
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipo... OMIM:608709
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Rabin-Pappas Syndrome
Tracheomalacia, Hypoventilation, Retinal telangiectasia OMIM:620155
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Typical Nemaline Myopathy
Nocturnal hypoventilation, Respiratory insufficiency ORPHA:171436
Hyperekplexia 4
Respiratory failure OMIM:618011
Stevenson-Carey Syndrome
Central hypoventilation OMIM:611961
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Bethlem Myopathy
Hypoventilation, Reduced maximal expiratory pressure ORPHA:610
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Red... OMIM:614856
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Cap Myopathy
Central hypoventilation ORPHA:171881
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation OMIM:606056
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypoventilation, Recurrent pneumonia OMIM:618493
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Osteosclerosis of the base of the skull OMIM:609993
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Rec... ORPHA:1782
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin OMIM:616299
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia OMIM:616278
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea ORPHA:79330
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis ORPHA:444013
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia OMIM:226650
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu... OMIM:259700
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Buerger Disease
Acrocyanosis ORPHA:36258
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... OMIM:619751
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency ORPHA:370968
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Premature Ovarian Failure 5
Streak ovary, Hypoplasia of the ovary OMIM:611548
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Enamel hypomineralization, Dental enamel pits ORPHA:3352
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia... ORPHA:1901
Idiopathic Congenital Hypothyroidism
Macroglossia, Umbilical hernia, Neonatal hyperbilirubinemia ORPHA:95717
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Ovarian Dysgenesis 10
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... OMIM:619834
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Osteopetrosis OMIM:615085
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Synovitis, Increase... ORPHA:77297
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, High palate, Gingival overgrowth OMIM:269920
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Respiratory insufficiency OMIM:245650
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal adipose tissue morphology, Abn... ORPHA:93160
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin level, Goiter ORPHA:95715
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Enamel hypoplasia, Abnormal dental enamel morphology ORPHA:3196
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Rickets OMIM:602722
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Prader-Willi Syndrome
Hypoventilation, Cutaneous photosensitivity OMIM:176270
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Cortic... OMIM:131300
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Tricuspid Atresia
Cyanosis ORPHA:1209
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Osteopo... OMIM:239000
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158057
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Familial Thyroid Dyshormonogenesis
Macroglossia, Umbilical hernia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubin... ORPHA:95716
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Premature Ovarian Failure 8
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... OMIM:615723
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... OMIM:614129
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Charcot-Marie-Tooth Disease Type 4C
Hypoventilation, Respiratory insufficiency ORPHA:99949
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis ORPHA:449285
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification ORPHA:163649
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... OMIM:259710
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypoplasia of the ovary, Elevated ci... OMIM:612885
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... OMIM:607625
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Hypogonadism, Neonatal hyperbilirubinemia, Micrognathia ORPHA:73272
Perrault Syndrome 2
Streak ovary OMIM:614926
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia, Cholelithiasis OMIM:605479
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Elevated circulating long chain fatty acid concentration, Hyperbili... OMIM:614886
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Rudiger Syndrome
Inguinal hernia, Flexion contracture, Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Bachmann-Bupp Syndrome
Cryptorchidism, Thin upper lip vermilion, High palate, Hyperbilirubinemia OMIM:619075
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Distal Xq28 Microduplication Syndrome
Dental crowding, Short lingual frenulum, Hypoplasia of the maxilla, Thick lower lip vermilion, Hi... ORPHA:293939
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... OMIM:609734
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure ORPHA:352447
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism, Increased serum bile acid concentration, Hyperbilirubinemia OMIM:619685
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Elevated circu... ORPHA:435660
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest ORPHA:293987
Premature Ovarian Failure 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:615724
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia OMIM:182900
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Elevated circulating follicle stimulating hormone level OMIM:620311
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia, Gingival bleeding ORPHA:98870
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Failure to thrive, Rickets OMIM:211600
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the dentition, Non-obstructive... ORPHA:432
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Failure to... OMIM:600081
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Graft Versus Host Disease
Fasciitis, Dupuytren contracture, Lipodystrophy, Trismus, Oral ulcer, Hyperbilirubinemia, Stomatitis ORPHA:39812
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets OMIM:613388
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tracheomalacia, Hypoventilation, Jaundice OMIM:203700
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Werner Syndrome
Increased bone mineral density, Lipoatrophy, Lipodystrophy, Joint stiffness, Osteoporosis, Slende... ORPHA:902
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Hyperbilirubinemia OMIM:235700
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hyperventilation OMIM:229700
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure ORPHA:731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure OMIM:606612
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Glycogen Storage Disease Vii
Cholelithiasis, Elevated circulating creatine kinase concentration, Hyperuricemia, Increased tota... OMIM:232800
Pmm2-Cdg
Mandibular prognathia, Thin upper lip vermilion, Multiple joint contractures, Lipodystrophy, Hypo... ORPHA:79318
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Micropenis, Hypoplasia of the ovary OMIM:618841
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... OMIM:241530
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Abno... ORPHA:2975
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia ORPHA:89937
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid concentration ORPHA:79303
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Hyperbilirubinemia ORPHA:79302
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density ORPHA:157215
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Dental crowding,... ORPHA:2457
Amelocerebrohypohidrotic Syndrome
Abnormality of dental color, Yellow-brown discoloration of the teeth, Abnormal dental enamel morp... ORPHA:1946
Alg1-Cdg
Respiratory failure ORPHA:79327
Perrault Syndrome 4
Increased circulating gonadotropin level, Cleft palate, Hypoplasia of the uterus, Bicornuate uter... OMIM:615300
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Rickets OMIM:611590
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Osteoporosis, Rickets OMIM:560000
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... OMIM:616482
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure ORPHA:1194
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Loss of glutea... ORPHA:435651
Pycnodysostosis
Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s... ORPHA:763
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Hyperbilirubinemia OMIM:214950
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture ORPHA:77259
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Bile duct pr... OMIM:619662
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosem... OMIM:227810
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... ORPHA:2176
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... ORPHA:244
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:98914
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... OMIM:616860
Joubert Syndrome 8
Hyperventilation, Prolonged neonatal jaundice OMIM:612291
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Reduced circulating prolactin concentration, Abnormality of the de... ORPHA:2235
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Enamel hyp... OMIM:264700
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility ORPHA:3226
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Hypoplasia of the... ORPHA:66628
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Enamel hyp... OMIM:277440
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hiatus hernia OMIM:609727
Poems Syndrome
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Weight loss, Sclerosis of skull base ORPHA:2905
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... ORPHA:289157
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density, Abnormal dental enamel mo... ORPHA:1798
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Akt2-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Hypertriglyceridemia, Lipodystrophy, Polycystic ovaries ORPHA:79085
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... ORPHA:90051
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Hypophosphatemic rickets OMIM:307800
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Hypoplasia of the... ORPHA:179494
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:151660
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Macroglossia, Umbilical h... ORPHA:90673
Congenital Generalized Lipodystrophy
Mandibular prognathia, Overgrowth of external genitalia, Hypertriglyceridemia, Lipodystrophy, Pre... ORPHA:528
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Lathosterolosis
Thick upper lip vermilion, Bilobate gallbladder, Micrognathia, Gingival overgrowth, Abnormal circ... OMIM:607330
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia OMIM:613280
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,... ORPHA:94089
Joubert Syndrome 17
Hyperventilation OMIM:614615
Cystic Echinococcosis
Ovarian cyst, Hyperbilirubinemia, Abnormality of the testis size ORPHA:400
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... ORPHA:89936
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Neonatal hyperbilirubinemia, Pituitary hypothyroidism, Macroglossia, Macroo... ORPHA:90674
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Abnormal pineal melatonin secretion, Hyperbilirubinemia ORPHA:69665
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration, Mi... OMIM:614887
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Posterior pituitary hypoplasia, Hyperbilirubinemia OMIM:613986
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Nocturnal hypoventilation ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Nocturnal hypoventilation ORPHA:352665
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Sickle Cell Anemia
Pigment gallstones, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita, Micrognathia OMIM:208085
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Dent Disease 1
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Micropenis, Reduced haptoglobin... OMIM:613673
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Hereditary Elliptocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea ORPHA:860
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Desmosterolosis
Increased bone mineral density, Failure to thrive, Osteopetrosis ORPHA:35107
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Rickets OMIM:607765
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... ORPHA:2658
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita OMIM:613404
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Otopalatodigital Syndrome Type 2
Omphalocele, Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal s... ORPHA:90652
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Bile Acid Synthesis Defect, Congenital, 3
Bile duct proliferation, Hyperbilirubinemia OMIM:613812
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Cholelithiasis, Abnormal blood potassium concentrat... ORPHA:3202
Mitchell-Riley Syndrome
Absent gallbladder, Annular pancreas, Pancreatic hypoplasia, Hyperbilirubinemia OMIM:615710
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:259730
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:618476
46,Xx Gonadal Dysgenesis
Streak ovary, Increased circulating gonadotropin level, Gonadal dysgenesis, Ambiguous genitalia, ... ORPHA:243
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia ORPHA:98905
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Aspiration pneumonia, Breathing dysregulation ORPHA:438213
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones OMIM:127000
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis ORPHA:896
Congenital Disorder Of Glycosylation, Type Iim
Mandibular prognathia, Exaggerated cupid's bow, Neonatal hyperbilirubinemia, Fused teeth, High pa... OMIM:300896
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Macroglossia, Ectopic thyroid, Hyperbilirubinemia, Umb... OMIM:218700
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... ORPHA:3008
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest ORPHA:26791
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, A... ORPHA:1772
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Cyanosis ORPHA:3309
Cranioectodermal Dysplasia 2
Inguinal hernia, Micrognathia, Cleft palate, Broad philtrum, Fused teeth, Bile duct proliferation... OMIM:613610
12Q14 Microdeletion Syndrome
Osteopoikilosis, Failure to thrive ORPHA:94063
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... ORPHA:99106
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis OMIM:259720
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pneumonia, Telangi... ORPHA:420741
Cholera
Miscarriage, Tachypnea, Aspiration pneumonia, Palmoplantar cutis laxa, Hyperventilation ORPHA:173
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Short Syndrome
Delayed eruption of teeth, Inguinal hernia, Lipoatrophy, Lipodystrophy, Micrognathia, Absence of ... OMIM:269880
Ameloonychohypohidrotic Syndrome
Marked delay in eruption of permanent teeth, Yellow-brown discoloration of the teeth, Hypocalcifi... OMIM:104570
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Thin upper lip vermilion, Hypospadias, Cryptorchidism, Cleft palate, Short ph... ORPHA:163979
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Micrognathia, Conjugated hyperbilirubinemia, Cryptorchidism, Elevated circulating ph... OMIM:614866
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Absenc... ORPHA:33364
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Ogden Syndrome
Microretrognathia, Thin upper lip vermilion, Inguinal hernia, Everted upper lip vermilion, Abnorm... OMIM:300855
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia OMIM:251880
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Bardet-Biedl Syndrome
Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Fumarase Deficiency
Reduced subcutaneous adipose tissue, High palate, Hyperbilirubinemia OMIM:606812
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age OMIM:616026
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Inguinal hernia, ... ORPHA:800
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Osteomalacia, Chondrocalcinosis OMIM:600740
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Mirizzi Syndrome
Cholesterol gallstones, Hyperbilirubinemia, Cholelithiasis, Abnormal ductus choledochus morpholog... ORPHA:521219
Glycogen Storage Disease Xii
Cholelithiasis, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hy... OMIM:611881
Cystinosis
Failure to thrive, Rickets ORPHA:213
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Cough, Acrocyanosis, Pu... ORPHA:183
Dravet Syndrome
Cyanotic episode ORPHA:33069
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Fraser-Like Syndrome
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:229230
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:610505
Wilson Disease
Hypoparathyroidism, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbumine... OMIM:277900
Pitt-Hopkins-Like Syndrome 2
Hyperventilation OMIM:614325
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Desmosterolosis
Generalized osteosclerosis, Failure to thrive, Joint contracture of the hand, Arthrogryposis mult... OMIM:602398
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss ORPHA:35687
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... ORPHA:249
Lethal Acantholytic Erosive Disorder
Respiratory failure, Fragile skin ORPHA:158687
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Enamel hypoplasia, Subperiost... OMIM:259775
Adult-Onset Cervical Dystonia, Dyt23 Type
Hyperventilation ORPHA:420492
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Hereditary Spherocytosis
Cholelithiasis, Hyperbilirubinemia ORPHA:822
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis frontalis int... ORPHA:79443
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density, Enamel hypoplasia, Obesity ORPHA:79444
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Hyperventilation ORPHA:98784
Meckel Syndrome 14
Pneumothorax, Cyanosis, Cardiorespiratory arrest OMIM:619879
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperventilation OMIM:253270
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores... ORPHA:3342
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... ORPHA:209905
Cowden Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hydrocele testis, Ovarian cyst, High pa... OMIM:615108
Fanconi-Bickel Syndrome
Osteopenia, Failure to thrive, Rickets ORPHA:2088
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Micrognathia, Cariou... OMIM:620186
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia... ORPHA:14
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure OMIM:252010
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Cowden Syndrome 6
Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hydrocele testis, Ovarian cyst, High pa... OMIM:615109
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Long penis, Thick lower lip vermilion, Gingival overgrow... OMIM:246200
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Childhood Absence Epilepsy
Hyperventilation ORPHA:64280
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets, Weight loss, Enamel hypoplasia, Failure to thrive OMIM:212750
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure OMIM:620327
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... ORPHA:980
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Ethylene Glycol Poisoning
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Elevated circ... OMIM:228300
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Esophageal Atresia
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Malignant Atrophic Papulosis
Pleural effusion, Telangiectasia of the skin, Respiratory failure ORPHA:679
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... ORPHA:355
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... OMIM:187300
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Lipoatrophy, Limitation of joint mobility... ORPHA:79474
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia ORPHA:496641
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
X-Linked Intellectual Disability, Nascimento Type
Hypospadias, Cryptorchidism, Deep philtrum, Downturned corners of mouth, Wide mouth, Thin vermili... ORPHA:163956
Pitt-Hopkins-Like Syndrome 1
Hyperventilation OMIM:610042
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Rett Syndrome
Apnea, Intermittent hyperventilation OMIM:312750
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Alg9-Cdg
Omphalocele, Microretrognathia, Thin upper lip vermilion, Lipodystrophy, Micrognathia, Wide mouth... ORPHA:79328
Degcags Syndrome
Hypospadias, Hiatus hernia, Protruding tongue, Cryptorchidism, Micrognathia, Wide mouth, Chordee,... OMIM:619488
Parenteral Nutrition-Associated Cholestasis
Biliary hyperplasia, Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-ac... ORPHA:567983
Aicardi-Goutieres Syndrome 1
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... ORPHA:2671
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Thin upper lip vermilion, Hypospadias, High, narrow palate, Short uvula, Broad phi... OMIM:619475
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Polycystic ovaries ORPHA:90301
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Patchy osteosclerosis ORPHA:2323
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Dent Disease
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... ORPHA:1652
Cowden Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hydrocele testis, Ovarian cyst, High pa... OMIM:158350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... ORPHA:2020
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... ORPHA:79138
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Streak ovary, Hypospadias, Micrognathia, Cryptorchidism, Uterus didelphys, Gonadal d... OMIM:618820
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Mccune-Albright Syndrome
Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,... ORPHA:562
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Flexion contracture, Downturned corners of mouth, Hypoplasia of the ovary, Azo... OMIM:619321
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Cyanosis, Apnea OMIM:261740
Congenital Erythropoietic Porphyria
Erythrodontia, Scarring, Increased connective tissue, Scarring alopecia of scalp, Abnormal circul... ORPHA:79277
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... ORPHA:340
Occipital Horn Syndrome
Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Osteoporosis,... ORPHA:198
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration ORPHA:506
Liver Disease, Severe Congenital
Hyperalaninemia, Hyponatremia, Inguinal hernia, Hypospadias, Elevated circulating alpha-fetoprote... OMIM:619991
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hyperventilation OMIM:618775
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood OMIM:618278
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Bloom Syndrome
Pneumonia, Chronic pulmonary obstruction, Telangiectasia, Respiratory failure, Rhinitis, Cutaneou... ORPHA:125
Double Outlet Left Ventricle
Cyanosis, Tachypnea ORPHA:3427
Caroli Syndrome
Conjugated hyperbilirubinemia, Abnormal ductus choledochus morphology, Hyperbilirubinemia ORPHA:480520
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... ORPHA:90793
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Hyperbilirubinemia ORPHA:464321
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Enamel hypoplasia, Increased sus... OMIM:119600
Isolated Biliary Atresia
Atretic gallbladder, Hypopituitarism, Bile duct proliferation, Conjugated hyperbilirubinemia ORPHA:30391
Pitt-Hopkins Syndrome
Acrocyanosis, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... ORPHA:91348
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... ORPHA:365
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis OMIM:617478
Developmental And Epileptic Encephalopathy 2
Hyperventilation OMIM:300672
Joubert Syndrome 21
Dyspnea, Respiratory failure, Chronic sinusitis, Apnea OMIM:615636
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Hardikar Syndrome
Cleft soft palate, Bilateral cleft lip and palate, Bile duct proliferation, Unilateral cleft lip,... OMIM:301068
Distal Renal Tubular Acidosis
Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Failu... ORPHA:18
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure ORPHA:533
Caroli Disease
Conjugated hyperbilirubinemia, Cholelithiasis, Abnormal circulating alpha-fetoprotein concentration ORPHA:53035
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormal ductus choledochus morphology, Hyperbilirubinemia ORPHA:562639
Encephalitis Lethargica
Hyperventilation ORPHA:83600
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Pearson Marrow-Pancreas Syndrome
Pancreatic fibrosis, Hyperbilirubinemia OMIM:557000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Shoulder flexion contracture, Micrognathia, Cryptorchidism, Flexion contracture,... OMIM:210710
Primary Hyperoxaluria
Generalized osteosclerosis, Failure to thrive, Recurrent fractures ORPHA:416
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hyperkalemia OMIM:608885
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Neurooculorenal Syndrome
Ectopic posterior pituitary, Micrognathia, Conjugated hyperbilirubinemia, Cryptorchidism, Broad p... OMIM:620305
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Rajab Interstitial Lung Disease With Brain Calcifications 1
Inguinal hernia, Small scrotum, Hypoalbuminemia, Bile duct proliferation, Hypocalcemia, Unconjuga... OMIM:613658
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis ORPHA:268943
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Orofaciodigital Syndrome I
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Pancreatic cysts, Cari... OMIM:311200
Familial Hypocalciuric Hypercalcemia
Lipoma, Osteomalacia, Chondrocalcinosis ORPHA:405
Reynolds Syndrome
Calcinosis, Lip telangiectasia, Hyperbilirubinemia OMIM:613471
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation ORPHA:90068
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic fibrosis, Bile duct proliferation, Conjugated hyperbilirubinemia, Pancreatic cysts OMIM:208500
Tarp Syndrome
Cyanosis, Apnea ORPHA:2886
Histiocytoid Cardiomyopathy
Cyanosis, Tachypnea, Cough ORPHA:137675
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation ORPHA:255210
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Acrocyanosis OMIM:223900
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Mandibular prognathia, Hypertriglyceridemia, Lipodystrophy, ... OMIM:608594
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Inguinal hernia, Streak ovary, Hypospadias, Micrognathia, Abnormality ... ORPHA:798
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin ORPHA:79404
Cntnap2-Related Developmental And Epileptic Encephalopathy
Intermittent hyperventilation ORPHA:163681
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea ORPHA:2299
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Mandibular prognathia, Hypertriglyceridemia, Lipodystrophy, ... OMIM:269700
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Aspiration, Neonatal respiratory distress, Death in infancy OMIM:618922
Intellectual Developmental Disorder, Autosomal Dominant 54
Apnea, Hyperventilation OMIM:617799
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Adrenal hyperplasia, High, narrow palate, Flexion contracture, Abnormal ovari... ORPHA:95699
Congenital Factor Vii Deficiency
Ovarian cyst, Gingival bleeding ORPHA:327
Nijmegen Breakage Syndrome
Respiratory failure, Cutaneous photosensitivity, Recurrent pneumonia ORPHA:647
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Hyperventilation ORPHA:522077
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Apnea, Erythema, Stridor, Aspiration OMIM:614653
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... OMIM:269500
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Camptodactyly of finger, Osteomalacia, Rickets, Corneal scarring, Keloids, Pat... OMIM:309000
Intellectual Developmental Disorder, Autosomal Dominant 57
Hyperventilation OMIM:618050
Tay-Sachs Disease
Aspiration OMIM:272800
Johanson-Blizzard Syndrome
Hypospadias, Urethrovaginal fistula, Septate vagina, Conjugated hyperbilirubinemia, Cryptorchidis... OMIM:243800
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Intermittent hyperventilation OMIM:300749
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Aspiration OMIM:606070
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Respiratory failure OMIM:300868
Infantile Nephropathic Cystinosis
Failure to thrive, Rickets ORPHA:411629
Acute Liver Failure
Jaundice, Abnormal respiratory system physiology, Hypocapnia, Bruising susceptibility, Abnormal p... ORPHA:90062
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Death in infancy OMIM:610768
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Inguinal hernia, Failure to thrive in i... ORPHA:904
Ovarian Hyperstimulation Syndrome
Enlarged polycystic ovaries, Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ... ORPHA:64739
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Pitt-Hopkins Syndrome
Intermittent hyperventilation OMIM:610954
Senior-Boichis Syndrome
Increased total bilirubin ORPHA:84081
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fractures ORPHA:3337
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increased circulat... OMIM:619534
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... ORPHA:572333
Fraser Syndrome 2
Respiratory failure OMIM:617666
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Recurrent fractures, Craniosynostosis, Reduced bone mineral density ORPHA:667
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Erythema ORPHA:2556
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Dermatomyositis
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial... ORPHA:221
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... ORPHA:97214
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Generalized abnormality of skin ORPHA:805
Yellow Fever
Pancreatic hyperplasia, Elevated circulating creatinine concentration, Elevated circulating creat... ORPHA:99829
Niemann-Pick Disease Type C
Jaundice, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Myhre Syndrome
Respiratory failure, Respiratory insufficiency OMIM:139210
Oculocerebrorenal Syndrome Of Lowe
Inguinal hernia, Recurrent fractures, Osteomalacia, Joint stiffness, Abnormal dental enamel morph... ORPHA:534
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma OMIM:617100
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... ORPHA:447
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis OMIM:306955
Steinert Myotonic Dystrophy
Respiratory insufficiency due to muscle weakness, Respiratory failure requiring assisted ventilat... ORPHA:273
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... ORPHA:740
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary arterial hypertension, Respiratory failure, Miscarriage, Restrictive ventilatory defect ORPHA:96334
Costello Syndrome
Tracheomalacia, Respiratory failure, Pneumothorax, Respiratory insufficiency OMIM:218040
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Failure to thrive, Recurrent fractures ORPHA:2785
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Failure to thrive, Increased density of long bones, Thickened cortex of ... OMIM:269150
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets ORPHA:2636
Aplasia Of Lacrimal And Salivary Glands
Carious teeth, Lacrimal gland hypoplasia, Lacrimal gland aplasia OMIM:180920
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... ORPHA:99125
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Carney Complex
Leydig cell neoplasia, Ovarian serous cystadenoma, Precocious puberty, Ovarian cyst, Abnormal mor... ORPHA:1359
Cystinosis, Nephropathic
Hypophosphatemic rickets, Rickets, Failure to thrive in infancy, Weight loss OMIM:219800
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis ORPHA:48435
Truncus Arteriosus
Cyanosis, Tachypnea ORPHA:3384
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:304120
Immunodeficiency 82 With Systemic Inflammation
Arthritis, Osteomyelitis, Osteomalacia, Weight loss OMIM:619381
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Emphysema ORPHA:500150
Aicardi-Goutières Syndrome
Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice ORPHA:51
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... ORPHA:287
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension, Cyanosis ORPHA:51608
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea ORPHA:285
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Pallister-Killian Syndrome
Stillbirth, Apneic episodes in infancy, Hyperventilation OMIM:601803

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 Pbx3

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 Pbx3.

No publications found that use IMPC mice or data for Pbx3.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Pbx3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pbx3tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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