Gene: Tacr1 MGI:98475

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

tachykinin receptor 1

Synonyms:

NK-1R, SPr, Tac1r, neurokinin receptor 1, NK1 receptor, NK1-R, substance p receptor

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tacr1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Tacr1 (0 diseases)
Human diseases predicted to be associated with Tacr1 (516 diseases)

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

The table below shows human diseases predicted to be associated to Tacr1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Schizophrenia 15	Hyperactivity	OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans	OMIM:154800
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology	ORPHA:98848
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Mast Cell Sarcoma	Mastocytosis, Splenomegaly	ORPHA:66661
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukoc...	ORPHA:98850
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints	ORPHA:50809
Osteochondrosis Of The Tarsal Bone	Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Osteochondritis dissecans, Tarsal sti...	ORPHA:563991
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Abnormal mast cell morphology	ORPHA:398189
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Exaggerated startle response	OMIM:617028
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Dysphagia, Gait ataxia, Hyperactivity, Impulsivity	OMIM:620448
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro...	ORPHA:98849
Mueller-Weiss Syndrome	Joint subluxation, Sclerosis of foot bone, Joint stiffness, Chondritis, Limitation of movement at...	ORPHA:566943
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Progressive joint destruction, Joint stiffness, Chondritis, Osteochondros...	ORPHA:564003
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Osteoarthritis Susceptibility 3	Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ...	OMIM:607850
Glycoprotein Storage Disease	Gout	OMIM:232900
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280785
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the elbow, Limitation...	ORPHA:2619
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Developmental And Epileptic Encephalopathy 43	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia	OMIM:617113
Sydenham Chorea	Septic arthritis, Emotional lability, Endocarditis, Irritability	ORPHA:306731
Kienbock Disease	Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis	ORPHA:97332
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Cutaneous mastocytosis	OMIM:248910
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger	ORPHA:1937
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Limitation of joint mobility, Polyarticular arthritis, Progressive joint destruction,...	ORPHA:85435
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Hartnup Disorder	Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia	OMIM:234500
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes...	OMIM:208250
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Mucopolysaccharidosis, Type Ix	Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Wrist hypermobility, Periarti...	OMIM:601492
Chondrocalcinosis 2	Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy	OMIM:118600
Angel-Shaped Phalangoepiphyseal Dysplasia	Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib...	OMIM:105835
Hyperprolinemia, Type I	Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia	OMIM:239500
Intellectual Developmental Disorder, Autosomal Dominant 67	Attention deficit hyperactivity disorder, Hypothyroidism, Motor tics, Hyperactivity, Compulsive b...	OMIM:619927
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
Dracunculiasis	Limitation of joint mobility, Skin rash, Arthritis, Flexion contracture, Recurrent cutaneous absc...	ORPHA:231
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Limitation of joint mobility, Joint stiffness, Genu valgum, Abno...	ORPHA:93308
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Synovitis, Glomerulonephritis, Arthritis, Serositis	ORPHA:567544
Familial Calcium Pyrophosphate Deposition	Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Arthritis, Os...	ORPHA:1416
Late-Onset Familial Hypoaldosteronism	Fever, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circula...	ORPHA:556037
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Tachypnea, Crescentic glomerulonephritis, Arthritis	OMIM:616414
Guanidinoacetate Methyltransferase Deficiency	Self-injurious behavior, Chorea, Aggressive behavior, Hyperactivity, Ataxia, Athetosis	ORPHA:382
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elbow flexion contracture, Knee flexion contracture, Arthritis, Colitis, Sterile arthritis, Cysti...	OMIM:604416
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Joint swelling, Irritability, Osteolytic defects of the p...	OMIM:228000
Osteoarthritis With Mild Chondrodysplasia	Knee osteoarthritis, Hip osteoarthritis, Joint stiffness, Heberden's node	OMIM:604864
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Chondrocalcinosis 1	Chondrocalcinosis, Osteoarthritis	OMIM:600668
Hennekam-Beemer Syndrome	Hypotension, Mastocytosis, Arrhythmia, Telangiectasia of the skin	ORPHA:2135
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Abnormality of adrenal physiology, Adrenal insufficiency, Increased ...	ORPHA:43
Pheochromocytoma/Paraganglioma Syndrome 1	Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom...	OMIM:168000
Pseudoachondroplasia	Delayed epiphyseal ossification, Irregular acetabular roof, Joint stiffness, Genu valgum, Increas...	ORPHA:750
Epiphyseal Dysplasia, Multiple, 3	Delayed epiphyseal ossification, Abnormal hip joint morphology, Limited elbow extension, Limited ...	OMIM:600969
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Arthritis	OMIM:617772
Chédiak-Higashi Syndrome	Epistaxis, Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell m...	ORPHA:167
Pheochromocytoma/Paraganglioma Syndrome 3	Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph...	OMIM:605373
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Resting tremor, Tremor, Irritability, Aggressive behavior, Hypera...	ORPHA:3077
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge...	OMIM:130060
Cranio-Osteoarthropathy	Eczematoid dermatitis, Joint stiffness, Joint swelling, Osteoarthritis, Arthritis, Abnormality of...	ORPHA:1525
Graves Disease	Graves disease, Goiter, Increased circulating free T3, Polyphagia, Increased circulating free T4 ...	OMIM:275000
Necrobiosis Lipoidica	Abnormality of neutrophil physiology, Telangiectasia of the skin, Granuloma	ORPHA:542592
Juvenile Huntington Disease	Chorea, Gait ataxia, Hyperactivity, Ataxia, Dementia, Progressive cerebellar ataxia	ORPHA:248111
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio...	OMIM:619827
Immunodeficiency 32B	Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Monocytopen...	OMIM:226990
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Multicentric Reticulohistiocytosis	Arthritis	ORPHA:139436
Bullous Impetigo	Pustule, Septic arthritis, Recurrent bacterial skin infections	ORPHA:36237
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis	OMIM:271600
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormality o...	ORPHA:85408
Familial Avascular Necrosis Of Femoral Head	Hip osteoarthritis, Limited hip movement	ORPHA:86820
Papa Syndrome	Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Myositis, Pustule...	ORPHA:69126
Trigeminal Neuralgia	Depression, Allodynia	ORPHA:221091
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Abnormalit...	ORPHA:2114
Holocarboxylase Synthetase Deficiency	Perioral eczema, Eczematoid dermatitis, Respiratory distress, Irritability, Keratoconjunctivitis,...	ORPHA:79242
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Wild Type Abeta2M Amyloidosis	Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Arthritis,...	ORPHA:85446
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Otitis media, Purulent rhinitis, Arthritis, Conjunctivitis	OMIM:601457
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Limitation of joint mobility, Arthritis	ORPHA:2582
C1Q Deficiency 2	Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Bronchiectasis	OMIM:620321
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the ankle, Genu valgum, Abnormality of the epiphyses of the elbow, Osteoarthritis,...	ORPHA:166002
Pure Autonomic Failure	Abnormality of circulating catecholamine level	ORPHA:441
Isolated Agammaglobulinemia	Pneumonia, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality of the eye, Re...	ORPHA:229717
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis	ORPHA:435804
Intellectual Developmental Disorder, Autosomal Recessive 38	Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,...	OMIM:615516
Beukes Hip Dysplasia	Shallow acetabular fossae, Osteoarthritis	OMIM:142669
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Aspiration pneumonia, Interictal EEG abnormality, Episodic tachypnea, Apnea, Emotiona...	ORPHA:79264
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci...	OMIM:610600
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Osteochondritis dissecans, Premature osteoarthritis	OMIM:165800
Epiphyseal Dysplasia, Multiple, 1	Delayed epiphyseal ossification, Hip osteoarthritis, Limited hip movement, Joint stiffness, Genu ...	OMIM:132400
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Osteoarthritis, Joint hypermobility	OMIM:130020
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Albers-Schönberg Osteopetrosis	Mandibular osteomyelitis, Joint dislocation, Osteomyelitis, Genu valgum, Generalized osteoscleros...	ORPHA:53
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Aggressive behavior, Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circul...	ORPHA:85327
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, Recurr...	ORPHA:33110
Dysspondyloenchondromatosis	Joint dislocation, Genu valgum, Generalized joint hypermobility, Osteoarthritis, Enlarged joints	ORPHA:85198
Felty Syndrome	Recurrent pneumonia, Limitation of joint mobility, Abnormal joint morphology, Osteolysis, Episcle...	ORPHA:47612
Progressive Osseous Heteroplasia	Ectopic ossification in muscle tissue, Limitation of joint mobility, Osteoarthritis	ORPHA:2762
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis	ORPHA:2206
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Fasciitis, Acute hepatitis, Chronic hepatitis, D...	ORPHA:39812
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Melorheostosis	Increased bone mineral density, Joint stiffness, Ectopic ossification in muscle tissue, Arthritis	ORPHA:2485
Oligoarticular Juvenile Idiopathic Arthritis	Rheumatoid arthritis, Abnormality of the ankle, Joint hypermobility, Knee osteoarthritis, Oligoar...	ORPHA:85410
Benign Schwannoma	Abnormality of peripheral nervous system electrophysiology, Nasal polyposis, Allodynia	ORPHA:252164
Early-Onset Familial Hypoaldosteronism	Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo...	ORPHA:556030
Insulin-Like Growth Factor I Deficiency	Decreased serum insulin-like growth factor 1, Short attention span, Hyperactivity, Elevated circu...	OMIM:608747
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Decreased compound muscle action potential amplitude, Bronchiectasis, Osteoarthritis, Joint hyper...	OMIM:620080
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Elevated circulating luteinizing hormone level, M...	ORPHA:90793
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Osteoarthritis	OMIM:614135
Anterior Cutaneous Nerve Entrapment Syndrome	Hyperesthesia, Somatic sensory dysfunction, Impaired tactile sensation, Anorexia, Allodynia	ORPHA:51890
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis	ORPHA:320365
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip osteoarthritis, Limited hip movement, Hip contracture, Abnormality of the knee, Hip subluxati...	ORPHA:99642
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Temperature instability, Oculogyric crisis, Intermittent hypothermia, Limb dystoni...	OMIM:608643
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Arthritis, Skin rash, Erythema nodosum	OMIM:611762
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response	ORPHA:309246
Epiphyseal Dysplasia, Multiple, 5	Premature osteoarthritis, Genu valgum, Delayed tarsal ossification, Delayed ossification of carpa...	OMIM:607078
Systemic-Onset Juvenile Idiopathic Arthritis	Skin rash, Joint swelling, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, Anterior uveitis	ORPHA:85414
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Arthritis	OMIM:177900
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Increased susceptibility to fractures, Synov...	ORPHA:77297
Dysplasia Epiphysealis Hemimelica	Joint stiffness, Genu valgum, Recurrent fractures, Osteoarthritis, Tarsal synostosis, Genu varum	ORPHA:1822
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Joint hypermobility	ORPHA:63442
Complex Regional Pain Syndrome	Dysesthesia, Trophic changes related to pain, Somatic sensory dysfunction, Allodynia	ORPHA:83452
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis	ORPHA:93283
Joubert Syndrome 23	Tachypnea, Apnea	OMIM:616490
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der...	ORPHA:324964
Hypochondroplasia	Abnormality of the elbow, Genu varum, Osteoarthritis, Joint hypermobility	ORPHA:429
Joubert Syndrome 7	Episodic tachypnea, Tachypnea, Genu valgum, Central apnea	OMIM:611560
Sapho Syndrome	Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der...	ORPHA:793
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent otitis media, Chronic sinusitis, Arthritis, Bronchiectasis	ORPHA:397596
Zika Virus Disease	Myelitis, Ankle swelling, Wrist swelling, Skin rash, Infectious encephalitis, Arthritis, Conjunct...	ORPHA:448237
Stiff-Person Syndrome	Depression, Fever, Opisthotonus, Exaggerated startle response, Diabetes mellitus	OMIM:184850
Progressive Pseudorheumatoid Dysplasia	Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Enlarged interphalangeal...	OMIM:208230
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis	OMIM:619248
Systemic Lupus Erythematosus, Susceptibility To, 6	Malar rash, Arthritis, Pericarditis	OMIM:609939
Familial Cold Autoinflammatory Syndrome 1	Conjunctivitis, Skin rash, Arthritis, Uveitis	OMIM:120100
Schnitzler Syndrome	Increased bone mineral density, Skin rash, Arthritis	ORPHA:37748
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,...	ORPHA:93351
Bacterial Toxic-Shock Syndrome	Pneumonia, Hepatitis, Fasciitis, Respiratory distress, Osteomyelitis, Skin rash, Infectious encep...	ORPHA:36234
Paget Disease Of Bone 6	Recurrent fractures, Osteoarthritis	OMIM:616833
Pigmented Nodular Adrenocortical Disease, Primary, 1	Decreased circulating dehydroepiandrosterone concentration, Depression, Increased circulating cor...	OMIM:610489
Neurotrophic Keratopathy	Allodynia, Anterior uveitis	ORPHA:137596
Systemic Lupus Erythematosus	Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis	OMIM:152700
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, C...	ORPHA:47
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ...	OMIM:613470
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Short attention span,...	ORPHA:449291
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Joint stiffness, Osteoarthritis	ORPHA:1345
Periodic Fever, Menstrual Cycle-Dependent	Fever, Increased circulating cortisol level	OMIM:614674
Cntnap2-Related Developmental And Epileptic Encephalopathy	Precocious puberty, Abnormal temper tantrums, Mental deterioration, Self-mutilation, Stereotypica...	ORPHA:163681
Pfapa Syndrome	Arthritis, Infectious encephalitis	ORPHA:42642
Pitt-Hopkins-Like Syndrome 1	Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Progressive...	OMIM:610042
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Tachypnea, Acute infectious pneumonia	ORPHA:264675
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, ...	OMIM:617321
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Joint stiffness, Genu valgum, Abnormal acetabulum morphology, Abnor...	ORPHA:166011
Spondylosis, Cervical	Osteoarthritis	OMIM:184300
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan...	ORPHA:31205
Spinocerebellar Ataxia Type 3	Dystonia, Abnormality of temperature regulation	ORPHA:98757
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Premature osteoarthritis	OMIM:184840
Hemochromatosis, Type 2A	Arthritis	OMIM:602390
Pigmented Nodular Adrenocortical Disease, Primary, 2	Depression, Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, ...	OMIM:610475
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler...	OMIM:166600
Alpha-Mannosidosis	Synostosis of joints, Chronic otitis media, Arthritis	ORPHA:61
Congenital Pseudoarthrosis Of The Clavicle	Osteoarthritis	ORPHA:66630
Autoimmune Hepatitis	Inflammation of the large intestine, Depression, Sclerosing cholangitis, Glomerulonephritis, Arth...	ORPHA:2137
Muckle-Wells Syndrome	Camptodactyly of finger, Recurrent aphthous stomatitis, Episcleritis, Skin rash, Arthritis, Conju...	ORPHA:575
Ulnar Hemimelia	Abnormality of the humeroulnar joint, Carpal synostosis, Limited elbow flexion, Elbow flexion con...	ORPHA:93320
Morgagni-Stewart-Morel Syndrome	Osteoporosis, Depression, Acne, Osteoarthritis	ORPHA:77296
Cinca Syndrome	Patellar overgrowth, Skin rash, Arthritis, Uveitis	OMIM:607115
Vertical Talus, Congenital	Arthritis	OMIM:192950
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Osteoarthritis	ORPHA:166100
Eosinophilic Fasciitis	Myositis, Arthritis, Fasciitis	ORPHA:3165
Adrenocortical Carcinoma	Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre...	ORPHA:1501
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Spondyloepimetaphyseal Dysplasia, Irapa Type	Genu valgum, Limited elbow extension, Osteoarthritis, Capitate-hamate fusion	OMIM:271650
Digital Extensor Muscle Aplasia-Polyneuropathy	Abnormality of temperature regulation, Heat intolerance	ORPHA:2926
Propionic Acidemia	Eczematoid dermatitis, Apnea, Tachypnea, Pancreatitis, Osteoporosis	OMIM:606054
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Tachypnea	OMIM:267450
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Patellar aplasia, Patellar disloc...	ORPHA:2614
Hemochromatosis, Type 3	Arthritis	OMIM:604250
Hyperthyroidism, Nonautoimmune	Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone level, Increased circulating f...	OMIM:609152
Familial Cold Urticaria	Conjunctivitis, Arthritis	ORPHA:47045
Periodic Fever, Familial, Autosomal Dominant	Erysipelas, Polyarticular arthritis, Skin rash, Myositis, Oligoarthritis, Conjunctivitis, Maculop...	OMIM:142680
Acute Lung Injury	Pneumonia, Tachypnea, Acute pancreatitis, Respiratory distress	ORPHA:178320
Neuropathy, Hereditary Sensory And Autonomic, Type V	Painless fractures due to injury, Osteomyelitis, Arthropathy, Osteoarthritis, Septic arthritis, R...	OMIM:608654
Enthesitis-Related Juvenile Idiopathic Arthritis	Hip osteoarthritis, Abnormality of the ankle, Anterior uveitis, Sacroiliac arthritis, Abnormal hi...	ORPHA:85438
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent otitis media, Membranous nephropathy, Arthritis, Recurrent sinusitis	OMIM:615559
Recurrent Respiratory Papillomatosis	Respiratory distress, Recurrent pneumonia, Tachypnea, Tracheomalacia	ORPHA:60032
X-Linked Cerebral Adrenoleukodystrophy	Mental deterioration, Male hypogonadism, Memory impairment, Confusion, Primary adrenal insufficie...	ORPHA:139396
Blau Syndrome	Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodactyly of finger, Joint swelling...	OMIM:186580
Wilson Disease	Depression, Hepatitis, Pathologic fracture, Joint swelling, Arthritis, Acute hepatitis	ORPHA:905
Methionine Malabsorption Syndrome	Tachypnea	OMIM:250900
Joubert Syndrome 30	Tachypnea, Apnea	OMIM:617622
Takayasu Arteritis	Inflammatory abnormality of the eye, Increased inflammatory response, Arthritis	ORPHA:3287
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea	OMIM:263000
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Pterygium, Osteolysis involving tarsal bones, Increased susceptibi...	ORPHA:371428
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, Arthritis	ORPHA:397744
Pudendal Neuralgia	Allodynia	ORPHA:60039
Stickler Syndrome Type 1	Osteoarthritis, Joint hypermobility	ORPHA:90653
Multiple Epiphyseal Dysplasia Type 5	Premature osteoarthritis, Limited hip movement, Genu valgum, Joint stiffness, Intervertebral disk...	ORPHA:93311
Infant Acute Respiratory Distress Syndrome	Pneumonia, Tachypnea, Nasal flaring	ORPHA:70587
Anti-Glomerular Basement Membrane Disease	Arthritis	ORPHA:375
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren...	OMIM:614700
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma...	OMIM:106300
Scedosporiosis	Pneumonia, Osteomyelitis, Sinusitis, Arthralgia/arthritis, Septic arthritis, Endocarditis, Perica...	ORPHA:449280
Eosinophilic Granulomatosis With Polyangiitis	Nasal polyposis, Skin rash, Increased inflammatory response, Myositis, Myocarditis, Arthritis, Si...	ORPHA:183
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Decreased nerve conduction velocity, Tachypnea, Camptodactyly of finger	OMIM:604320
Adiposis Dolorosa	Depression, Recurrent skin infections, Arthritis	ORPHA:36397
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Episcleritis, Skin rash, Arthritis, Inflammatory abnormality of the eye, Conju...	ORPHA:36412
Behcet Syndrome	Irritability, Iridocyclitis, Erythema nodosum, Arthritis, Epididymitis, Iritis	OMIM:109650
Neuroblastoma	Elevated circulating catecholamine level, Ataxia	ORPHA:635
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Eczematoid dermatitis, Arthropathy, Wormian bones, Oste...	OMIM:259100
Severe Hemophilia A	Limitation of joint mobility, Progressive joint destruction, Joint swelling, Synovitis, Limb join...	ORPHA:169802
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Limitation of joint mobility, Polyarticular arthritis, Sacroiliac arthritis, Abnormality...	ORPHA:85436
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Eczematoid dermatitis, Psoriasiform dermatitis, Crohn's disease, Arthritis, B...	OMIM:616100
Cardiocranial Syndrome, Pfeiffer Type	Episodic tachypnea, Sagittal craniosynostosis, Plantar flexion contracture, Contracture of the pr...	ORPHA:2872
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Tachypnea	OMIM:620085
Microscopic Polyangiitis	Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pancreatitis, Art...	ORPHA:727
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Spontaneous, recurrent epi...	OMIM:214500
Atypical Rett Syndrome	Episodic tachypnea, EEG abnormality, Sudden episodic apnea	ORPHA:3095
Dermatoosteolysis, Kirghizian Type	Keratitis, Abnormality of the wrist, Osteoarthritis, Tarsal synostosis, Osteolysis	ORPHA:1657
Lyme Disease	Infectious encephalitis, Joint swelling, Arthritis, Uveitis	ORPHA:91546
Sting-Associated Vasculopathy, Infantile-Onset	Pustular rash, Joint stiffness, Malar rash, Skin rash, Pustule, Myositis, Tachypnea	OMIM:615934
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Undetectable visual evoked potentials, Episodic tachypnea	ORPHA:163961
Lesch-Nyhan Syndrome	Gout	ORPHA:510
Moderate Hemophilia A	Limitation of joint mobility, Joint swelling, Hip contracture, Arthropathy, Synovitis, Joint hemo...	ORPHA:169805
Neurodegeneration With Brain Iron Accumulation 2B	Mental deterioration, Chorea, Gait ataxia, Short attention span, Dysmetria, Hyperactivity, Dyspha...	OMIM:610217
Combined Oxidative Phosphorylation Deficiency 53	Septic arthritis, Osteomyelitis, Arthritis	OMIM:619423
Hemochromatosis, Type 4	Osteoarthritis	OMIM:606069
Avian Influenza	Pneumonia, Myelitis, Hepatitis, Respiratory distress, Infectious encephalitis, Tachypnea, Conjunc...	ORPHA:454836
Chikungunya	Depression, Joint stiffness, Skin rash, Maculopapular exanthema, Joint swelling, Crusting erythem...	ORPHA:324625
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d...	ORPHA:183675
Vexas Syndrome	Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Nasal cho...	OMIM:301054
Brain-Lung-Thyroid Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Chorea, Abnormal eating behavior,...	ORPHA:209905
Spondyloepiphyseal Dysplasia Tarda	Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo...	ORPHA:93284
Beta-Thalassemia	Hypogonadotropic hypogonadism, Abnormality of temperature regulation, Irritability	ORPHA:848
Mixed Connective Tissue Disease	Joint stiffness, Skin rash, Joint swelling, Myositis, Gastritis, Keratoconjunctivitis sicca, Arth...	ORPHA:809
Cardiomyopathy, Dilated, 2H	Tachypnea	OMIM:620203
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Wormian bones, Flat acetabular roof, Tachypnea	OMIM:613320
Pseudoachondroplasia	Delayed epiphyseal ossification, Genu recurvatum, Ulnar deviation of the wrist, Genu valgum, Limi...	OMIM:177170
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Multiple joint dislocation, Hip subluxation, Elbow flexion contr...	ORPHA:93360
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Septic arthritis, Recurrent pneumonia, Eczematoid dermatitis	OMIM:617780
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess, Splenomegaly, Peri...	OMIM:618935
Whipple Disease	Depression, Infectious encephalitis, Myositis, Arthritis, Myocarditis, Pericarditis, Uveitis	ORPHA:3452
Joubert Syndrome 9	Episodic tachypnea, Apnea	OMIM:612285
Antisynthetase Syndrome	Joint dislocation, Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocarditis	ORPHA:81
Desbuquois Dysplasia 1	Joint dislocation, Advanced tarsal ossification, Joint hypermobility, Phalangeal dislocation, Ost...	OMIM:251450
Holocarboxylase Synthetase Deficiency	Tachypnea, Skin rash, Irritability	OMIM:253270
Citrullinemia Type I	Tachypnea, Ankle clonus	ORPHA:247525
Psoriasis 14, Pustular	Polyarticular arthritis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Cholangitis	OMIM:614204
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Recurrent sinusitis, Joint hypermobility, Osteoarthritis, Hyperextensibility o...	OMIM:130000
Spinal Cord Injury	Allodynia	ORPHA:90058
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Gout	OMIM:162000
Laron Syndrome	Osteoarthritis, Abnormality of the elbow	ORPHA:633
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Tachypnea	OMIM:616501
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Knee dislocation, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, J...	OMIM:618000
Stickler Syndrome, Type I	Joint stiffness, Joint hypermobility, Arthropathy, Osteoarthritis, Arthritis	OMIM:108300
Staphylococcal Necrotizing Pneumonia	Pneumonia, Tachypnea, Acute infectious pneumonia, Respiratory distress	ORPHA:36238
Roifman-Chitayat Syndrome	Pneumonia, Osteopenia, Arthritis	OMIM:613328
Biotinidase Deficiency	Apnea, Skin rash, Tachypnea, Seborrheic dermatitis, Conjunctivitis, Recurrent skin infections	OMIM:253260
Rheumatic Fever	Arthritis, Sinusitis, Myocarditis, Endocarditis, Pericarditis	ORPHA:3099
Chronic Pneumonitis Of Infancy	Respiratory distress, Tachypnea, Intercostal retractions	ORPHA:91359
Adult-Onset Still Disease	Hepatitis, Interstitial pneumonitis, Skin rash, Joint swelling, Arthritis, Arthralgia/arthritis, ...	ORPHA:829
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Tachypnea	OMIM:614299
Pyruvate Dehydrogenase Deficiency	Tachypnea, Osteolytic defects of the middle phalanx of the 4th toe	ORPHA:765
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo...	ORPHA:95699
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Eczematoid dermatitis, Erythroderma, Glomerulonephritis, Arthritis	OMIM:304790
Tetanus	Stiff neck, Tachypnea, Respiratory distress	ORPHA:3299
Farber Disease	Respiratory distress, Abnormality of the wrist, Joint swelling, Arthritis, Abnormality of the kne...	ORPHA:333
Immunodeficiency 68	Septic arthritis, Recurrent skin infections, Lymphadenitis	OMIM:612260
Kid Syndrome	Posterior blepharitis, Folliculitis, Acne inversa, Keratitis, Patellar hypoplasia, Psoriasiform d...	ORPHA:477
Congenital Tufting Enteropathy	Punctate keratitis, Arthritis, Irritability	ORPHA:92050
Complement Factor I Deficiency	Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, Glomerulonephritis, Septic arthritis...	OMIM:610984
Melioidosis	Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Prostatitis, Acute infect...	ORPHA:31202
Hyperimmunoglobulinemia D With Periodic Fever	Recurrent aphthous stomatitis, Peritonitis, Limitation of joint mobility, Arthritis	ORPHA:343
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Depression, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Inc...	ORPHA:189427
Fusariosis	Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Maculopapular exanthema, Myositis, Peritonitis, A...	ORPHA:228119
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Tachypnea, Skin rash	ORPHA:542323
Proteasome-Associated Autoinflammatory Syndrome 3	Skin rash, Myositis, Arthritis, Sinusitis, Conjunctivitis, Flexion contracture, Panniculitis	OMIM:617591
Pachydermoperiostosis	Limitation of joint mobility, Eczematoid dermatitis, Osteolysis, Osteomyelitis, Joint swelling, S...	ORPHA:2796
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostatitis, Enteroviral he...	OMIM:307200
Reynolds Syndrome	Keratoconjunctivitis sicca, Skin rash, Arthritis, Infectious encephalitis	ORPHA:779
Aortic Aneurysm, Familial Thoracic 12	Arthritis	OMIM:619825
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Inflammatory abnormality of the skin, Respiratory distress, Episodic tachypnea, Tachypnea	ORPHA:26793
Congenital Syphilis	Pneumonia, Keratitis, Synovitis, Osteochondrosis, Pancreatitis, Myocarditis, Rhinitis, Maculopapu...	ORPHA:499009
Multifocal Atrial Tachycardia	Tachypnea	ORPHA:3282
Primary Pulmonary Hypoplasia	Tachypnea, Apnea, Patellar hypoplasia	ORPHA:2257
Listeriosis	Pneumonia, Arteritis, Stiff neck, Osteomyelitis, Pyelonephritis, Respiratory distress, Cholecysti...	ORPHA:533
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Malar rash, Skin rash, Myositis, Arthritis	ORPHA:93552
46,Xy Sex Reversal 5	Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating...	OMIM:613080
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Cervical subluxation, Arthritis	OMIM:184100
Otospondylomegaepiphyseal Dysplasia	Limitation of joint mobility, Abnormal joint morphology, Enlarged joints, Osteoarthritis, Abnorma...	ORPHA:1427
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Episodic tachypnea	OMIM:615160
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperactivit...	ORPHA:99819
Brucellosis	Pneumonia, Hip osteoarthritis, Arteritis, Depression, Sacroiliac arthritis, Osteomyelitis, Infect...	ORPHA:1304
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Gout	OMIM:617056
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea	OMIM:245050
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, Erythroderma, Eczematoid dermatitis	OMIM:619510
Joubert Syndrome 3	Episodic tachypnea, Central apnea	OMIM:608629
Symptomatic Form Of Hfe-Related Hemochromatosis	Joint stiffness, Joint swelling, Arthropathy, Arthritis, Osteoporosis, Stiff interphalangeal joints	ORPHA:465508
Generalized Pustular Psoriasis	Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Cheilitis, Uveitis	ORPHA:247353
Reactive Arthritis	Inflammation of the large intestine, Osteomyelitis, Joint stiffness, Recurrent aphthous stomatiti...	ORPHA:29207
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff...	ORPHA:90796
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperactivit...	ORPHA:424
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Tachypnea	OMIM:614857
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Tachypnea	OMIM:615838
Dowling-Degos Disease	Acne inversa, Arthritis	ORPHA:79145
Relapsing Polychondritis	Uveitis, Limitation of joint mobility, Hepatitis, Keratitis, Recurrent aphthous stomatitis, Chond...	ORPHA:728
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Tachypnea, Necrotizing enterocolitis	OMIM:201475
Cryoglobulinemic Vasculitis	Keratoconjunctivitis sicca, Arthritis, Viral hepatitis	ORPHA:91138
Localized Scleroderma	Fasciitis, Sclerosis of finger phalanx, Esophagitis, Hashimoto thyroiditis, Arthritis, Flexion co...	ORPHA:90289
Porphyria Due To Ala Dehydratase Deficiency	Depression, Restlessness, Abnormal fear-induced behavior, Agitation	ORPHA:100924
3-Hydroxy-3-Methylglutaric Aciduria	Apnea, Tachypnea, Hypsarrhythmia, EEG abnormality, Acute pancreatitis	ORPHA:20
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Abnormal sacroiliac j...	ORPHA:32960
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Tachypnea	OMIM:237310
Polymyositis	Chondrocalcinosis, Arthritis, Pericarditis	ORPHA:732
Brachytelephalangic Chondrodysplasia Punctata	Epiphyseal stippling of toe phalanges, Epiphyseal stippling, Stippling of the epiphyses of the di...	ORPHA:79345
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Dementia, Distal sensory impairment, Hypoesthesia, Dysphagia, Allodynia	OMIM:603041
Giant Cell Arteritis	Joint stiffness, Depression, Arthritis, Pericarditis	ORPHA:397
Alkaptonuria	Limited hip movement, Intervertebral disk degeneration, Arthropathy, Limited shoulder movement, A...	OMIM:203500
Machado-Joseph Disease Type 1	Dystonia, Abnormality of temperature regulation, Dysphagia	ORPHA:276238
Machado-Joseph Disease Type 2	Dystonia, Abnormality of temperature regulation, Dysphagia	ORPHA:276241
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Gout, Arthritis	ORPHA:411543
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Episodic tachypnea, Irritability, Apneic episodes in infancy	ORPHA:348
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Respiratory distress, Interstitial pneumonitis, Nonspecific interstitial pne...	OMIM:610913
Behçet Disease	Recurrent aphthous stomatitis, Infectious encephalitis, Increased inflammatory response, Myositis...	ORPHA:117
Coccidioidomycosis	Pneumonia, Folliculitis, Respiratory distress, Morbilliform rash, Osteomyelitis, Skin rash, Perit...	ORPHA:228123
Acute Interstitial Pneumonia	Tachypnea, Bronchiectasis	ORPHA:79126
High Altitude Pulmonary Edema	Tachypnea	ORPHA:330012
Familial Mediterranean Fever	Depression, Erysipelas, Skin rash, Orchitis, Peritonitis, Pancreatitis, Arthritis, Osteoarthritis...	ORPHA:342
Diffuse Cutaneous Systemic Sclerosis	Flexion contracture, Osteolysis, Arthritis	ORPHA:220393
Cholera	Tachypnea, Irritability, Aspiration pneumonia	ORPHA:173
Spondyloenchondrodysplasia	Pneumonia, Hepatitis, Skin rash, Arthritis, Juvenile rheumatoid arthritis	ORPHA:1855
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Tachypnea, Interstitial pneumonitis	ORPHA:217563
Joubert Syndrome 35	Abnormality of temperature regulation	OMIM:618161
Riddle Syndrome	Pneumonia, Recurrent pneumonia, Otitis media, Recurrent sinusitis, Chronic sinusitis, Emotional l...	ORPHA:420741
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Gout	OMIM:618061
Overlap Myositis	Subluxation of the small joints of the hand, Rheumatoid arthritis, Arthritis	ORPHA:206572
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Genu varum, Osteoarthritis	OMIM:602111
Machado-Joseph Disease Type 3	Dystonia, Abnormality of temperature regulation, Dysphagia	ORPHA:276244
Multiple Epiphyseal Dysplasia Type 4	Limitation of joint mobility, Stiff ankle, Elbow flexion contracture, Premature osteoarthritis, D...	ORPHA:93307
Plague	Inflammation of the large intestine, Depression, Lymphadenitis, Chapped lip, Respiratory distress...	ORPHA:707
Blau Syndrome	Posterior uveitis, Limitation of joint mobility, Keratitis, Polyarticular arthritis, Camptodactyl...	ORPHA:90340
Sweet Syndrome	Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ...	ORPHA:3243
Shigellosis	Pneumonia, Ulcerative colitis, Peritonitis, Arthritis, Myocarditis, Conjunctivitis, Acute colitis...	ORPHA:810
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Osteomalacia, Genu valgum, Hypophosphatemic rickets, Osteoarthritis	OMIM:307800
Serotonin Syndrome	Tachypnea, Irritability	ORPHA:43116
Hereditary Xanthinuria	Rheumatoid arthritis, Gout, Arthropathy	ORPHA:3467
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Tachypnea	OMIM:610978
Systemic Sclerosis	Osteomyelitis, Joint swelling, Osteolytic defects of the phalanges of the hand, Glomerulonephriti...	ORPHA:90291
Joubert Syndrome With Oculorenal Defect	Tachypnea, Apnea	ORPHA:2318
Ethylene Glycol Poisoning	Gastritis, Tachypnea, Euphoria, Episodic respiratory distress	ORPHA:31826
Glycogen Storage Disease Vii	Gout	OMIM:232800
Coronary Arterial Fistula	Bacterial endocarditis, Tachypnea	ORPHA:2041
Surfactant Metabolism Dysfunction, Pulmonary, 4	Tachypnea	OMIM:300770
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis	ORPHA:411536
Gaucher Disease Type 1	Osteopenia, Depression, Pathologic fracture, Osteoarthritis, Osteoporosis, Osteolysis	ORPHA:77259
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Apnea, Early ossification of capital femoral epiphyses, Abnormal acetabulum morphology, Tachypnea...	ORPHA:397715
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Nonspecific interstitial pneumonia, Tachypnea	OMIM:610921
Von Hippel-Lindau Disease	Elevated circulating catecholamine level, Adrenal pheochromocytoma, Pancreatic islet cell adenoma...	ORPHA:892
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Ankle swelling, Eczematoid dermatitis, Respiratory distress...	ORPHA:3260
Primary Sjögren Syndrome	Arteritis, Depression, Parotitis, Chronic active hepatitis, Polyarticular arthropathy, Lymphocyti...	ORPHA:289390
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal enchondral ossification, Premature osteoarthritis, Abno...	ORPHA:93314
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec...	OMIM:300755
X-Linked Hypophosphatemia	Limitation of joint mobility, Rickets, Sacroiliac joint synovitis, Genu valgum, Generalized osteo...	ORPHA:89936
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Psoriasiform dermatitis, Arthritis, Recurrent aspiration pneumonia, Chronic oral cand...	ORPHA:221139
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Premature osteoarthritis, Flexion contracture, Recurrent pneumonia, Enlarged joints	OMIM:215150
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Chilblains, Skin rash, Irritability,...	OMIM:615846
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Abnormality of temperature regulation, Hypothermia	OMIM:618493
Idiopathic Camptocormia	Myositis, Myelitis, Osteoarthritis, Abnormal inflammatory response	ORPHA:1320
Pituitary Adenoma 4, Acth-Secreting	Increased circulating ACTH level, Pituitary adenoma, Emotional lability, Abnormal fear-induced be...	OMIM:219090
Apparent Mineralocorticoid Excess	Decreased circulating aldosterone level, Polydipsia, Abnormality of circulating cortisol level, D...	ORPHA:320
Hyper-Igd Syndrome	Lymphadenitis, Skin rash, Serositis, Arthritis, Chronic oral candidiasis	OMIM:260920
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:233710
Catastrophic Antiphospholipid Syndrome	Myocarditis, Arthritis	ORPHA:464343
Simple Cryoglobulinemia	Nephritis, Membranoproliferative glomerulonephritis, Arthritis, Pericarditis, Viral hepatitis	ORPHA:91139
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Inflammation of the large intestine, Chronic gastritis, Esophagitis, Skin rash, Perianal abscess,...	OMIM:301074
Familial Mediterranean Fever	Erysipelas, Crohn's disease, Orchitis, Peritonitis, Arthritis, Pericarditis	OMIM:249100
Congenitally Uncorrected Transposition Of The Great Arteries	Tachypnea	ORPHA:860
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:233690
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Eczematoid dermatitis, Recurrent otitis media, Skin rash, Recurrent sinusitis, Hashimoto thyroidi...	OMIM:615688
Oculocerebrorenal Syndrome Of Lowe	Depression, Periodontitis, Osteomalacia, Joint stiffness, Genu valgum, Recurrent fractures, Joint...	ORPHA:534
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Gout	OMIM:603860
Juvenile Dermatomyositis	Limitation of joint mobility, Skin rash, Myositis, Arthritis, Pericarditis	ORPHA:93672
Cocaine Intoxication	Respiratory distress, Tachypnea, Glomerulonephritis, Tubulointerstitial nephritis, Colitis, Mania	ORPHA:90068
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Arthritis	ORPHA:761
Hemophilia A	Joint hemorrhage, Osteoarthritis	OMIM:306700
Immunodeficiency 82 With Systemic Inflammation	Pneumonia, Pustular rash, Hepatitis, Osteomalacia, Recurrent otitis media, Osteomyelitis, Skin ra...	OMIM:619381
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Premature osteoarthritis, Joint hypermobility, Generalized bone ...	ORPHA:93352
Kawasaki Disease	Hepatitis, Skin rash, Cholecystitis, Irritability, Arthritis, Myocarditis, Conjunctivitis, Cheili...	ORPHA:2331
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Abnormality of temperature regulation	OMIM:619173
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Limitation of joint mobility	OMIM:313400
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Increased infl...	ORPHA:48435
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand	OMIM:190350
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis, Otitis media,...	ORPHA:906
Surfactant Metabolism Dysfunction, Pulmonary, 1	Tachypnea, Apnea	OMIM:265120
Joubert Syndrome	Episodic tachypnea, Apnea	ORPHA:475
Complete Atrioventricular Septal Defect	Recurrent pneumonia, Tachypnea, Intercostal retractions	ORPHA:1329
Systemic Lupus Erythematosus	Discoid lupus rash, Depression, Malar rash, Lupus nephritis, Arthritis, Cheilitis, Serositis	ORPHA:536
Immunodeficiency 67	Septic arthritis	OMIM:607676
Hemophilia B	Joint hemorrhage, Osteoarthritis	OMIM:306900
Marshall Syndrome	Genu valgum, Osteoarthritis	ORPHA:560
Alkaptonuria	Joint dislocation, Joint stiffness, Increased susceptibility to fractures, Joint swelling, Prosta...	ORPHA:56
Double Outlet Right Ventricle	Tachypnea	ORPHA:3426
Beta-Ketothiolase Deficiency	Tachypnea	ORPHA:134
Granulomatous Disease, Chronic, X-Linked	Granuloma, Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:306400
Hyperparathyroidism, Neonatal Severe	Tachypnea, Recurrent fractures	OMIM:239200
Joubert Syndrome 2	Episodic tachypnea, Central apnea, Metopic synostosis	OMIM:608091
Loeys-Dietz Syndrome 5	Joint hypermobility, Eosinophilic infiltration of the esophagus, Osteoarthritis, Congenital finge...	OMIM:615582
Cockayne Syndrome Type 1	Male hypogonadism, Abnormality of temperature regulation, Tremor	ORPHA:90321
Deeah Syndrome	Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased circulating ...	OMIM:619004
Autoimmune Lymphoproliferative Syndrome	Hepatitis, Recurrent aphthous stomatitis, Gastritis, Glomerulonephritis, Arthritis, Colitis, Pann...	ORPHA:3261
Aicardi-Goutières Syndrome	Chilblains, Multiple joint contractures, Irritability, Myositis, Arthritis, Panniculitis	ORPHA:51
Stuve-Wiedemann Syndrome 1	Abnormality of temperature regulation, Dysphagia, Fever, Recurrent fever	OMIM:601559
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Gout	ORPHA:79233
Hypermobile Ehlers-Danlos Syndrome	Depression, Limitation of joint mobility, Elbow dislocation, Joint dislocation, Osteolysis, Decre...	ORPHA:285
Hereditary Sensory And Autonomic Neuropathy Type 4	Abnormality of the ankle, Painless fractures due to injury, Fasciitis, Osteomyelitis, Abnormal em...	ORPHA:642
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Osteochondritis dissecans, Intervertebral disk degeneration, Joint hypermobil...	OMIM:619656
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Inflammation of the large intestine, Periodontitis, Gout, Increased susceptibility to...	ORPHA:79259
Hereditary Spherocytosis	Maculopapular exanthema, Gout	ORPHA:822
Gaucher Disease	Osteopenia, Depression, Joint dislocation, Hepatitis, Osteolysis, Pathologic fracture, Osteomyeli...	ORPHA:355
Glycogen Storage Disease Ia	Osteoporosis, Pancreatitis, Gout	OMIM:232200
Glycogen Storage Disease Ib	Osteoporosis, Inflammation of the large intestine, Pancreatitis, Gout	OMIM:232220
Dysbetalipoproteinemia	Acute pancreatitis, Gout	ORPHA:412
22Q11.2 Deletion Syndrome	Depression, Multiple suture craniosynostosis, Joint hypermobility, Seborrheic dermatitis, Arthrit...	ORPHA:567
Multiple Osteochondromas	Limitation of joint mobility, Talipes valgus, Limited hip movement, Genu valgum, Femoroacetabular...	ORPHA:321
Sitosterolemia 1	Arthritis	OMIM:210250
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Tachypnea	OMIM:615751
Joubert Syndrome 1	Episodic tachypnea, Central apnea	OMIM:213300
Fabry Disease	Depression, Reduced bone mineral density, Arthritis	ORPHA:324
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Tachypnea, Hepatitis	ORPHA:415
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Tubulointerstitial nephritis, Gout	OMIM:174000
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Skin rash, Osteoarthritis	ORPHA:2298
Wilson Disease	Chondrocalcinosis, Osteomalacia, Decreased nerve conduction velocity, Joint hypermobility, Atypic...	OMIM:277900
Orofaciodigital Syndrome Type 6	Episodic tachypnea, Apnea	ORPHA:2754
Autoinflammatory Disease, Systemic, With Vasculitis	Atopic dermatitis, Parotitis, Colitis, Arthritis, Conjunctivitis, Epididymitis	OMIM:620376
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Tachypnea, Irritability	OMIM:618278
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Rickets, Joint hypermobility, Tachypnea, Reduced bone mineral density	OMIM:613658
Osteogenesis Imperfecta	Osteopenia, Fractures of the long bones, Genu valgum, Reduced bone mineral density, Increased sus...	ORPHA:666
Rh Deficiency Syndrome	Tachypnea	ORPHA:71275
Chronic Mucocutaneous Candidiasis	Abnormality of temperature regulation	ORPHA:1334
Choreoacanthocytosis	Depression, Decreased amplitude of sensory action potentials, Emotional lability, Irritability, A...	ORPHA:2388
Congenital Tricuspid Valve Dysplasia	Tachypnea	ORPHA:555874
Pyruvate Carboxylase Deficiency	Tachypnea	ORPHA:3008
Marburg Hemorrhagic Fever	Uveitis, Skin rash, Orchitis, Pancreatitis, Arthritis, Maculopapular exanthema, Pericarditis	ORPHA:99826
Smooth Muscle Dysfunction Syndrome	Tachypnea	OMIM:613834
Pulmonary Alveolar Microlithiasis	Tachypnea, Stippled calcification in carpal bones, Bronchiectasis	ORPHA:60025
Dermatomyositis	Chondrocalcinosis, Heliotrope rash, Skin rash, Myositis, Arthritis, Myocarditis, Pericarditis	ORPHA:221
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Arthritis, Joint hypermobility	ORPHA:93111
Glycogen Storage Disease Ic	Inflammation of the large intestine, Gout, Stomatitis, Chronic pancreatitis	OMIM:232240
Mucopolysaccharidosis Type 2, Severe Form	Flexion contracture, Limitation of joint mobility, Arthritis, Camptodactyly of finger	ORPHA:217085
Scorpion Envenomation	Myocarditis, Tachypnea, Acute pancreatitis	ORPHA:466677
Mucopolysaccharidosis Type 2, Attenuated Form	Flexion contracture, Limitation of joint mobility, Arthritis, Camptodactyly of finger	ORPHA:217093
Aneurysm-Osteoarthritis Syndrome	Camptodactyly of finger, Osteochondritis dissecans, Intervertebral disk degeneration, Joint hyper...	ORPHA:284984
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Iridocyclitis, Arthritis, Bronchiectasis, Uveitis	OMIM:181000
Ulnar-Mammary Syndrome	Abnormality of temperature regulation, Delayed puberty	ORPHA:3138
Phosphoribosylpyrophosphate Synthetase Superactivity	Gout	OMIM:300661
Gitelman Syndrome	Chondrocalcinosis, Respiratory distress, Gout, Hashimoto thyroiditis, Tubulointerstitial nephritis	ORPHA:358
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, Arthritis	OMIM:161700
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Pancreatitis, Myocarditis, Septic arthritis, Acute colitis	ORPHA:544482
Malignant Hyperthermia Of Anesthesia	Tachypnea	ORPHA:423
Atrial Septal Defect, Ostium Primum Type	Tachypnea	ORPHA:99106
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, ...	ORPHA:2968
Hunter-Macdonald Syndrome	Joint contracture of the hand, Delayed cranial suture closure, Premature osteoarthritis, Cubitus ...	OMIM:611962
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Camptodactyly of finger, Recurrent otitis media, Joint hypermobility, Synovitis, Wide...	ORPHA:3455
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Limitation of joint mobility, Contractures of the large joints, Decreased ner...	ORPHA:580
Stickler Syndrome	Joint dislocation, Genu valgum, Joint hypermobility, Osteoarthritis, Chronic otitis media, Reduce...	ORPHA:828
Histiocytoid Cardiomyopathy	Tachypnea	ORPHA:137675
Acromegaly	Depression, Acne, Joint swelling, Osteoarthritis	ORPHA:963
Chronic Graft Versus Host Disease	Urinary bladder inflammation, Fasciitis, Keratoconjunctivitis sicca, Arthritis, Flexion contractu...	ORPHA:99921
Classical Ehlers-Danlos Syndrome	Osteopenia, Shoulder dislocation, Joint swelling, Generalized joint hypermobility, Phalangeal dis...	ORPHA:287
Tetrasomy 9P	Joint dislocation, Glue ear, Myositis, Arthritis, Pericarditis	ORPHA:3310
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Limited wrist movement, Limited hip movement, Joint stiffness, Limi...	ORPHA:740
African Trypanosomiasis	Abnormality of circulating cortisol level, Tremor, Irritability, Aggressive behavior, Abnormality...	ORPHA:3385
Arima Syndrome	Tachypnea	OMIM:243910
Marfan Syndrome	Genu recurvatum, Premature osteoarthritis, Limited elbow extension, Joint hypermobility, Camptoda...	OMIM:154700
Gaisböck Syndrome	Gout, Cholecystitis	ORPHA:90041
Loeys-Dietz Syndrome 3	Osteopenia, Hip osteoarthritis, Osteochondritis dissecans, Intervertebral disk degeneration, Join...	OMIM:613795
Orofaciodigital Syndrome Type 2	Tachypnea, Apnea	ORPHA:2751
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Osteoarthritis	OMIM:619714
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,...	ORPHA:353281
Somatomammotropinoma	Depression, Joint swelling, Osteoarthritis	ORPHA:314769
Noonan Syndrome 1	Synovitis, Cubitus valgus	OMIM:163950
Joubert Syndrome 5	Episodic tachypnea, Central apnea	OMIM:610188
Central Hypoventilation Syndrome, Congenital, 1	Abnormality of temperature regulation	OMIM:209880
Acute Transverse Myelitis	Abnormality of temperature regulation, Fever	ORPHA:139417
Lacrimoauriculodentodigital Syndrome	Keratoconjunctivitis, Keratoconjunctivitis sicca, Arthritis	ORPHA:2363
Double Outlet Left Ventricle	Tachypnea	ORPHA:3427
Aortic Arch Interruption	Respiratory distress, Tachypnea	ORPHA:2299
Autosomal Recessive Malignant Osteopetrosis	Abnormality of temperature regulation, Tremor	ORPHA:667
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,...	ORPHA:353277
Renal Cysts And Diabetes Syndrome	Gout	OMIM:137920
Aspartylglucosaminuria	Joint stiffness, Chronic otitis media, Arthritis	ORPHA:93
Exercise-Induced Malignant Hyperthermia	Tachypnea	ORPHA:466650
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Tachypnea	OMIM:220111
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of temperature regulation, Heat intolerance	ORPHA:2273
Goodpasture Syndrome	Tachypnea, Glomerulonephritis	OMIM:233450
Truncus Arteriosus	Tachypnea	ORPHA:3384
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Periodontitis, Joint dislocation, Joint hypermobility, Osteoarthritis...	ORPHA:286

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 Tacr1

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us