Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

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.

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 Similarity of
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Cutaneous mastocytosis OMIM:154800
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Abnormal mast cell morphology, Mastocytosis, Splenomegaly ORPHA:98848
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Abnormal pu... OMIM:616414
Pelger-Huet-Like Anomaly And Episodic Fever With Abdominal Pain
Fever, Recurrent fever OMIM:260570
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Cutaneous Mastocytoma
Cutaneous mastocytosis ORPHA:79455
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints, Synovitis ORPHA:50809
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Osteochondrosis Of The Tarsal Bone
Chondritis, Abnormal tarsal ossification, Tarsal sclerosis, Tarsal stippling, Osteochondritis Dis... ORPHA:563991
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Leukocytosis, Hypotension,... ORPHA:98850
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis OMIM:609655
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology, Intracranial hemorrhage ORPHA:398189
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Recurrent bronchitis, Nephritis, Arthritis OMIM:216950
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Dysmetria, Fo... OMIM:605361
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Recurrent respiratory infections, Arthritis OMIM:300310
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Recurrent upper respiratory tr... ORPHA:60032
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Mueller-Weiss Syndrome
Chondritis, Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteo... ORPHA:566943
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Hypotension, Chronic lymphatic leukemia, Normocytic anemia, Throm... ORPHA:98849
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthritis, Knee osteo... ORPHA:2619
Sydenham Chorea
Endocarditis, Septic arthritis, Emotional lability, Irritability, Recurrent streptococcus pneumon... ORPHA:306731
Osteoarthritis Susceptibility 3
Osteoarthritis of the first carpometacarpal joint, Osteoarthritis, Osteoarthritis of the distal i... OMIM:607850
Maculopapular Cutaneous Mastocytosis
Telangiectasia of the skin, Cardiac arrest, Cutaneous mastocytosis ORPHA:79457
Osteochondrosis Of The Metatarsal Bone
Chondritis, Progressive joint destruction, Joint stiffness, Sclerosis of foot bone, Osteochondros... ORPHA:564003
Migraine, Familial Hemiplegic, 1
Tremor, Fever, Anxiety OMIM:141500
Glycoprotein Storage Disease
Gout OMIM:232900
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Diffuse Cutaneous Mastocytosis
Hypotension, Leukemia, Gastrointestinal hemorrhage, Cutaneous mastocytosis ORPHA:79456
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Farber Lipogranulomatosis
Irritability, Joint swelling, Respiratory insufficiency, Arthritis OMIM:228000
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity ORPHA:85288
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Kienbock Disease
Limitation of joint mobility, Osteoarthritis, Osteochondritis Dissecans, Abnormality of the wrist ORPHA:97332
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyp... ORPHA:248111
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Arrhythmia, Chronic leukemia, Gastrointestinal hemorrhage, Hypotension, Telangiectasia of the ski... ORPHA:98292
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Myocarditis, Increased propor... ORPHA:2442
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Increased circulating renin level, Decreased circulating aldoste... ORPHA:556037
Eng-Strom Syndrome
Camptodactyly of finger, Arthritis ORPHA:1937
Arthralgia/arthritis, Pericarditis, Endocarditis, Pleuritis, Pulmonary fibrosis, Decreased pulmon... ORPHA:449280
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Mental deterioration, Ataxia, Hyperactivity OMIM:615924
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Congenital finger flexion contractures, Wrist flexion contracture, Gen... OMIM:208250
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Dyspnea, Respiratory distress, Parenchymal consolidation, Pleural effusion, Coug... ORPHA:36238
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Delayed ossification of carpal bones, Premature osteoarthritis, Hyperextensib... OMIM:105835
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Congenital Atransferrinemia
Arthritis ORPHA:1195
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Acute pancreatitis, Abnormal pulmonary interstitial mor... ORPHA:178320
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Purulent rhinitis, Pneumonia, Conjunctivitis, Otitis media, Arthritis OMIM:601457
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Synovitis, Reduced bone mineral density, Progressive joint destruction, Symmetric... ORPHA:85435
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Restrictive ventilatory defect, Intraalveolar phospholipid accumulati... OMIM:300770
Chondrocalcinosis 2
Osteoarthritis, Arthropathy, Polyarticular chondrocalcinosis OMIM:118600
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Inspiratory stridor, Delayed epiphyseal ossification, Osteoarthritis, Recurrent respi... OMIM:618618
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Skin rash, Flexion contracture, Recurrent cutaneous abscess formation, Limitation of joint mobili... ORPHA:231
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Finger joint hypermobility, Knee joint hypermobility, Joint stiffness, Limitation of... ORPHA:93308
Anti-Glomerular Basement Membrane Disease
Cough, Respiratory insufficiency, Hemoptysis, Pulmonary infiltrates, Arthritis ORPHA:375
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Abnormal pleura morphology, Limitation of joint mobility, Arthritis ORPHA:2582
Familial Calcium Pyrophosphate Deposition
Joint swelling, Chondrocalcinosis, Joint dislocation, Osteoarthritis, Limitation of joint mobilit... ORPHA:1416
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Synovitis, Glomerulonephritis, Serositis, Arthritis ORPHA:567544
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Goiter, Attention deficit hyperactivity disorder, Increa... OMIM:188570
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Respiratory distress, Pulmo... OMIM:610978
Dystonia 12
Emotional lability, Fever, Anxiety, Depression OMIM:128235
Felty Syndrome
Osteolysis, Pleuritis, Pericarditis, Pulmonary fibrosis, Chronic otitis media, Synovitis, Recurre... ORPHA:47612
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Cough, Chronic otitis media, Recurrent respiratory infections, Conjunc... ORPHA:33110
Distal joint laxity, Limited elbow extension, Genu valgum, Irregular carpal bones, Limited hip ex... ORPHA:750
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Pulmonar... ORPHA:70587
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Colitis, Cystic acne, Knee flexion contracture, Sterile arthritis, Elbow flexion contracture, Acn... OMIM:604416
Osteoarthritis With Mild Chondrodysplasia
Hip osteoarthritis, Joint stiffness, Heberden's node, Knee osteoarthritis OMIM:604864
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Abnormal hip joint morphology, Limited knee extension, Delayed epiphysea... OMIM:600969
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Avian Influenza
Ground-glass opacification, Myelitis, Respiratory distress, Dyspnea, Pleural effusion, Cough, Non... ORPHA:454836
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Isolated Agammaglobulinemia
Skin rash, Pneumonia, Recurrent respiratory infections, Inflammatory abnormality of the eye, Recu... ORPHA:229717
Majeed Syndrome
Pustule, Cough, Flexion contracture, Synovitis, Increased bone mineral density, Abnormal inflamma... ORPHA:77297
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... OMIM:610600
Yao Syndrome
Skin rash, Inflammatory abnormality of the skin, Pleuritis, Pericarditis, Keratoconjunctivitis si... OMIM:617321
Sleep apnea, Joint hyperflexibility, Abnormality of the elbow, Genu varum, Osteoarthritis ORPHA:429
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Osteoarthritis, Osteochondritis Dissecans, Depressed nasal bridge OMIM:165800
Abnormality of the knee, Joint swelling, Joint stiffness, Eczema, Osteoarthritis, Arthritis ORPHA:1525
Paragangliomas 1
Extraadrenal pheochromocytoma, Vagal paraganglioma, Adrenal pheochromocytoma, Elevated circulatin... OMIM:168000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular... OMIM:265120
Holocarboxylase Synthetase Deficiency
Respiratory distress, Perioral eczema, Irritability, Tachypnea, Keratoconjunctivitis, Eczema ORPHA:79242
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Hypocomplementemic Urticarial Vasculitis
Skin rash, Restrictive ventilatory defect, Dyspnea, Pleural effusion, Cough, Emphysema, Uveitis, ... ORPHA:36412
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Arthritis OMIM:617772
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Hennekam-Beemer Syndrome
Hypotension, Mastocytosis, Arrhythmia, Telangiectasia of the skin ORPHA:2135
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Vacuolated lymphocytes, Abnormal natu... ORPHA:167
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Abnormal pulmonary artery morpholog... ORPHA:2257
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma, Telangiectasia of the skin ORPHA:542592
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Ehlers-Danlos Syndrome, Hypermobility Type
Joint hypermobility, Joint dislocation, Osteoarthritis, Joint laxity OMIM:130020
Paragangliomas 3
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Elevated circulating catecholamine level... OMIM:605373
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Osteoarthritis, Joint stiffness ORPHA:1345
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Abnormal hip joint morphology, Joint swelling, Hip osteoarthritis, Flexion contrac... ORPHA:85408
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... ORPHA:556030
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement ORPHA:86820
Peritonitis, Pulmonary opacity, Bronchiectasis, Maculopapular exanthema, Pneumonia, Sinusitis, My... ORPHA:228119
Graft Versus Host Disease
Acute hepatitis, Gastrointestinal inflammation, Inflammatory abnormality of the skin, Maculopapul... ORPHA:39812
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Abnormal bone ossification, Osteoarthr... ORPHA:2114
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Ataxia, Progressive psychomotor deterioration, Limb dystonia, Hype... ORPHA:363400
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
Peripheral Dysostosis
Osteoarthritis, Joint stiffness ORPHA:1795
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Myositis, Crohn's disease, Limitation of joint mobility... ORPHA:69126
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Interictal EEG abnormality, Episodic tachypnea, Emotional lability, Aspiration pneumonia, ... ORPHA:79264
Skin rash, Dyspnea, Pericarditis, Thyroiditis, Cough, Abnormal pleura morphology, Abnormal pulmon... ORPHA:99867
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Takayasu Arteritis
Increased inflammatory response, Abnormal pattern of respiration, Pulmonary arterial hypertension... ORPHA:3287
X-Linked Adrenoleukodystrophy
Dementia, Gait disturbance, Somatic sensory dysfunction, Adrenal insufficiency, Increased circula... ORPHA:43
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Septic arthritis ORPHA:36237
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Joint laxity, Increased susceptibility to fractures, Congenital bilateral hip dislocation, Premat... OMIM:130060
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Genu valgum, Abnormality of the epiphyses of the elbow, Genu varum, Abno... ORPHA:166002
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Endocarditis, Increased inflammatory response, Abnormal pleura morphology, Cough, Nasa... ORPHA:183
Stiff-Person Syndrome
Depression, Agoraphobia, Opisthotonus, Exaggerated startle response, Anxiety, Diabetes mellitus, ... OMIM:184850
Wild Type Abeta2M Amyloidosis
Arthritis, Decreased amplitude of sensory action potentials, Arthropathy, Decreased nerve conduct... ORPHA:85446
Adult-Onset Still Disease
Skin rash, Restrictive ventilatory defect, Pleuritis, Pericarditis, Joint swelling, Hepatitis, My... ORPHA:829
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Pharyngalgia, Recurrent aphthous stomatitis, Erythema nodosum, Arthritis OMIM:611762
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Generalized joint laxity, Hip osteoarthritis, Limited hip movement, Joint stiffness,... OMIM:132400
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Hyperactivity ORPHA:2382
Mixed Connective Tissue Disease
Skin rash, Osteolysis, Dyspnea, Pericarditis, Joint swelling, Pleuritis, Pulmonary fibrosis, Abno... ORPHA:809
Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness, Arthritis ORPHA:2485
Juvenile Idiopathic Arthritis
Skin rash, Abnormal sacroiliac joint morphology, Joint swelling, Abnormal pleura morphology, Uvei... ORPHA:92
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Apnea, Chronic gastritis, Colitis, Eczema, Arthritis OMIM:608809
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Systemic Lupus Erythematosus
Pleuritis, Pericarditis, Lupus nephritis, Malar rash, Nephritis, Arthritis OMIM:152700
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Rheumatic Fever
Endocarditis, Pericarditis, Abnormal pleura morphology, Epistaxis, Respiratory insufficiency, Sin... ORPHA:3099
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
X-Linked Agammaglobulinemia
Skin rash, Abnormal lung morphology, Chronic otitis media, Sinusitis, Conjunctivitis, Hepatitis, ... ORPHA:47
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Respiratory tract infection, Tachypnea, Respiratory distress, Pneumonia, ... ORPHA:36234
Genu valgum, Enlarged joints, Generalized joint laxity, Joint dislocation, Osteoarthritis ORPHA:85198
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Osteoarthritis, Limitation of joint mobility ORPHA:2762
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Ataxia, Hyperactivity OMIM:612716
Albers-Schönberg Osteopetrosis
Genu valgum, Osteomyelitis, Recurrent fractures, Generalized osteosclerosis, Joint dislocation, M... ORPHA:53
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Ventilator dependence with inability to wean, Inspiratory stridor, Respi... OMIM:604320
Joubert Syndrome 7
Tachypnea, Episodic tachypnea, Central apnea, Neonatal breathing dysregulation OMIM:611560
Hyperlysinemia, Type I
Cognitive impairment, Hyperactivity OMIM:238700
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Anteverted nares, Premature osteoarthritis OMIM:184840
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Pleuritis, Pericarditis, Arthritis OMIM:609939
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the knee, Hip subluxation, Protrusio acetabuli, Hip osteoarthritis, Limited hip mo... ORPHA:99642
Muckle-Wells Syndrome
Skin rash, Camptodactyly of finger, Restrictive ventilatory defect, Uveitis, Conjunctivitis, Epis... ORPHA:575
Atypical Rett Syndrome
Sudden episodic apnea, Episodic tachypnea, Panic attack, EEG abnormality, Abnormal pattern of res... ORPHA:3095
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Social and occupational deterioration, Hyperactivity, Memory impairme... ORPHA:98818
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu valgum, Multiple joint dislocation, Hip subluxation, Joint laxity, Laryngotracheomalacia, Ge... ORPHA:93360
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Benign Schwannoma
Abnormality of peripheral nervous system electrophysiology, Nasal polyposis, Abnormality of the l... ORPHA:252164
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Multiple Carboxylase Deficiency
Skin rash, Tachypnea, Respiratory distress ORPHA:148
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Bronchiectasis, Thyroiditis, Recurrent otitis media, Recurre... OMIM:614700
Dysplasia Epiphysealis Hemimelica
Genu valgum, Tarsal synostosis, Recurrent fractures, Joint stiffness, Genu varum, Osteoarthritis ORPHA:1822
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Osteoarthritis OMIM:614135
Trigeminal Neuralgia
Episodic paroxysmal anxiety, Allodynia ORPHA:221091
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Fever, Irritability ORPHA:30925
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Widow'S Peak Syndrome
Hip osteoarthritis, Recurrent patellar dislocation, Arthralgia/arthritis OMIM:314570
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Delayed tarsal ossification, Premature osteoarthritis, Delayed ossification of carpa... OMIM:607078
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility ORPHA:63442
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Recurrent upper respiratory tract infections, Chronic atrophic gastritis, Eczema,... OMIM:616100
Sapho Syndrome
Inflammation of the large intestine, Skin rash, Pustule, Osteolysis, Abnormal sacroiliac joint mo... ORPHA:793
Cardiocranial Syndrome, Pfeiffer Type
Plantar flexion contractures, Episodic tachypnea, Wide nasal bridge, Sagittal craniosynostosis, C... ORPHA:2872
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Relapsing Polychondritis
Chondritis of pinna, Chondritis, Scleritis, Pericarditis, Dyspnea, Cough, Abnormal pattern of res... ORPHA:728
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent sinusitis, Membra... OMIM:615559
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Synostosis of joints, Chronic otitis media, Arthritis, Recurrent respiratory infections, Depresse... ORPHA:61
Progressive Pseudorheumatoid Dysplasia
Osteoporosis, Camptodactyly of finger, Enlarged interphalangeal joints, Joint swelling, Joint sti... OMIM:208230
Pfapa Syndrome
Recurrent pharyngitis, Encephalitis, Arthritis ORPHA:42642
Reactive Arthritis
Inflammation of the large intestine, Pustule, Pericarditis, Joint swelling, Pulmonary fibrosis, A... ORPHA:29207
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Abnormal sacroiliac joint morphology, Osteolysis,... ORPHA:324964
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wormian bones, Short nose, Pulmonary arterial hypertension, Tachypnea, Anteverted nares, Wide nos... OMIM:613320
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Abnormal ossification involving the femoral head and neck, Epiphyseal stipp... ORPHA:79345
Rat-Bite Fever
Skin rash, Parotitis, Pustule, Endocarditis, Pericarditis, Lymphadenitis, Maculopapular exanthema... ORPHA:31205
Desbuquois Dysplasia 1
Osteoporosis, Joint laxity, Advanced tarsal ossification, Short nose, Radioulnar dislocation, Pha... OMIM:251450
Pericarditis, Chondrocalcinosis, Exertional dyspnea, Pulmonary fibrosis, Cough, Respiratory insuf... ORPHA:732
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Conjunctivitis, Uveitis, Arthritis OMIM:120100
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Joint dislocation, Osteoarthritis ORPHA:166024
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Synostosis of carpal bones, Abnormal joint morphology, Abnormality of ... ORPHA:93351
Joubert Syndrome 30
Apnea, Tachypnea OMIM:617622
Holocarboxylase Synthetase Deficiency
Tachypnea, Skin rash, Irritability, Hyperventilation OMIM:253270
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Farber Disease
Osteoporosis, Abnormality of the knee, Joint swelling, Respiratory distress, Recurrent upper resp... ORPHA:333
Autosomal Recessive Non-Syndromic Intellectual Disability
Chorea, Dystonia, Hyperactivity ORPHA:88616
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insulin-like gr... ORPHA:85327
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Tachypnea, Pulmonary fibrosis, Malar rash, Pustular rash, Joint stiffness, My... OMIM:615934
Ulnar Hemimelia
Limited elbow extension, Dislocated radial head, Humeroradial synostosis, Congenital finger flexi... ORPHA:93320
Diffuse Cutaneous Systemic Sclerosis
Osteolysis, Dyspnea, Pulmonary fibrosis, Flexion contracture, Pulmonary arterial hypertension, Pu... ORPHA:220393
Prostatitis, Lung abscess, Respiratory tract infection, Cutaneous abscess, Acute infectious pneum... ORPHA:31202
Periodic Fever, Familial, Autosomal Dominant
Skin rash, Pleuritis, Maculopapular exanthema, Conjunctivitis, Erysipelas, Oligoarthritis, Polyar... OMIM:142680
Complex Regional Pain Syndrome
Trophic changes related to pain, Somatic sensory dysfunction, Allodynia, Dysesthesia ORPHA:83452
Complement Factor I Deficiency
Pyelonephritis, Recurrent otitis media, Recurrent sinusitis, Glomerulonephritis, Recurrent strept... OMIM:610984
Schnitzler Syndrome
Increased bone mineral density, Skin rash, Arthritis ORPHA:37748
Multiple Epiphyseal Dysplasia, Beighton Type
Genu valgum, Abnormal hip joint morphology, Joint stiffness, Double-layered patella, Limitation o... ORPHA:166011
Microscopic Polyangiitis
Peritonitis, Skin rash, Pericarditis, Increased inflammatory response, Uveitis, Epistaxis, Episcl... ORPHA:727
Severe Hemophilia A
Joint hemorrhage, Joint swelling, Synovitis, Epistaxis, Progressive joint destruction, Limitation... ORPHA:169802
Myelitis, Pericarditis, Dyspnea, Pulmonary fibrosis, Flexion contracture, Uveitis, Osteolytic def... ORPHA:801
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Pulmonary fibrosis, Recurrent sinusitis, Pne... ORPHA:420741
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Impaired pain sensation, Chorea, Hyperactivity ORPHA:500180
Roifman-Chitayat Syndrome
Pneumonia, Wide nasal bridge, Arthritis, Osteopenia, Depressed nasal bridge OMIM:613328
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Chorea, Ataxia, Hyperactivity, Athetosis ORPHA:382
Car T Cell Therapy-Associated Cytokine Release Syndrome
Skin rash, Increased inflammatory response, Pleural effusion, Respiratory failure, Pulmonary edem... ORPHA:542323
Paget Disease Of Bone 6
Recurrent fractures, Osteoarthritis OMIM:616833
Joubert Syndrome 3
Episodic tachypnea, Central apnea, Wide nasal bridge, Anteverted nares, Neonatal breathing dysreg... OMIM:608629
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Eczema, Septic arthritis, Recurrent pneumonia OMIM:617780
Vexas Syndrome
Chondritis of pinna, Arteritis, Neutrophilic infiltration of the skin, Nasal chondritis, Arthriti... OMIM:301054
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Enteroviral hepatitis, Conjunct... OMIM:300755
Stickler Syndrome Type 1
Joint hyperflexibility, Osteoarthritis, Short nose ORPHA:90653
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Whipple Disease
Pleuritis, Pericarditis, Cough, Uveitis, Respiratory insufficiency, Encephalitis, Myocarditis, My... ORPHA:3452
Pyruvate Dehydrogenase Deficiency
Tachypnea, Dyspnea, Osteolytic defects of the middle phalanx of the 4th toe, Wide nasal bridge ORPHA:765
Digital Extensor Muscle Aplasia-Polyneuropathy
Heat intolerance, Abnormality of temperature regulation ORPHA:2926
Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Gout, Nephritis OMIM:162000
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteoporosis, Shoulder dislocation, Knee dislocation, Hip dislocation, Osteoarthritis OMIM:618000
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis ORPHA:166100
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Spontaneous hemolytic... OMIM:613470
Hemochromatosis, Type 4
Osteoarthritis OMIM:606069
Blau Syndrome
Camptodactyly of finger, Pericarditis, Iritis, Joint swelling, Flexion contracture of toe, Uveiti... OMIM:186580
Hemochromatosis, Type 2A
Arthritis OMIM:602390
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Reynolds Syndrome
Skin rash, Respiratory insufficiency, Keratoconjunctivitis sicca, Encephalitis, Arthritis ORPHA:779
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Male hypogonadism, Difficulty walking, Decreased circulating cortisol level, P... ORPHA:139396
Skin rash, Osteolysis, Joint swelling, Ankle joint effusion, Diminished motivation, Maculopapular... ORPHA:324625
Oligoarticular Juvenile Idiopathic Arthritis
Joint hypermobility, Rheumatoid arthritis, Uveitis, Oligoarthritis, Knee osteoarthritis, Abnormal... ORPHA:85410
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Genu valgum, Osteoarthritis, Capitate-hamate fusion OMIM:271650
Cinca Syndrome
Skin rash, Patellar overgrowth, Uveitis, Arthritis OMIM:607115
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Enterov... OMIM:307200
Laron Syndrome
Abnormality of the elbow, Osteoarthritis, Aplasia/Hypoplasia involving the nose, Hypoplastic nasa... ORPHA:633
Nail-Patella Syndrome
Abnormality of the elbow, Antecubital pterygium, Elbow flexion contracture, Osteochondritis Disse... ORPHA:2614
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea, Short nose ORPHA:163961
Rasmussen Subacute Encephalitis
Inability to walk, Hyperactivity, Hemidystonia, Cognitive impairment, Memory impairment, Attentio... ORPHA:1929
Gand Syndrome
Hyperactivity OMIM:615074
Tachypnea, Stiff neck, Respiratory distress, Laryngospasm ORPHA:3299
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Recurrent fractures, Generalized osteosclerosis, Osteopoik... ORPHA:1306
Propionic Acidemia
Osteoporosis, Apnea, Tachypnea, Pancreatitis, Eczema OMIM:606054
Vertical Talus, Congenital
Arthritis OMIM:192950
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Viral hepatitis, Thyroiditis, Sclerosing ch... ORPHA:2137
Wilson Disease
Acute hepatitis, Joint swelling, Aggressive behavior, Hepatitis, Pathologic fracture, Arthritis ORPHA:905
Neurotrophic Keratopathy
Anterior uveitis, Allodynia ORPHA:137596
Eosinophilic Fasciitis
Myositis, Arthritis, Fasciitis ORPHA:3165
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Broad-based gait, Hyperactivity ORPHA:457260
Familial Cold Urticaria
Conjunctivitis, Arthritis ORPHA:47045
Citrullinemia Type I
Tachypnea, Ankle clonus ORPHA:247525
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Decreased response to growth hormone stimuation test OMIM:615286
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Hemochromatosis, Type 3
Arthritis OMIM:604250
Spondyloarthropathy, Susceptibility To, 1
Inflammation of the large intestine, Hip osteoarthritis, Enthesitis, Psoriasiform dermatitis, Oli... OMIM:106300
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea, Anteverted nares, Wide nasal bridge OMIM:220111
Periodic Fever, Menstrual Cycle-Dependent
Fever, Increased circulating cortisol level OMIM:614674
Ehlers-Danlos Syndrome, Classic Type, 1
Joint hypermobility, Hyperextensibility of the knee, Recurrent sinusitis, Hyperextensibility at e... OMIM:130000
Pediatric Systemic Lupus Erythematosus
Skin rash, Dyspnea, Pleural effusion, Discoid lupus rash, Malar rash, Myositis, Nephritis, Arthritis ORPHA:93552
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormal hip joint morphology, Abnormality of the ankles, Hip osteoarthritis, Abnormality of the ... ORPHA:85438
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Hyperactivity ORPHA:2157
Behcet Syndrome
Epididymitis, Iridocyclitis, Iritis, Irritability, Erythema nodosum, Arthritis OMIM:109650
Multiple Epiphyseal Dysplasia Type 5
Genu valgum, Intervertebral disc degeneration, Abnormal hip joint morphology, Decreased hip abduc... ORPHA:93311
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Increased circulating corticosterone level, Elevated ... ORPHA:95699
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of the knee, Skin rash, Iridocyclitis, Iritis, Polyarticular arthritis, Uveitis, Enth... ORPHA:85436
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Spontaneous, recurrent epistaxis, Impaired neutrophil ... OMIM:214500
Dermatoosteolysis, Kirghizian Type
Osteolysis, Tarsal synostosis, Keratitis, Abnormality of the wrist, Osteoarthritis ORPHA:1657
Lyme Disease
Joint swelling, Uveitis, Encephalitis, Arthritis ORPHA:91546
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteoporosis, Wormian bones, Seborrheic dermatitis, Eczematoid dermatitis, Osteolytic defects of ... OMIM:259100
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Osteolysis, Sclerotic cranial sutures, Osteolysis involving bones of the upper limb... ORPHA:371428
Gomez-Lopez-Hernandez Syndrome
Cognitive impairment, Hyperactivity, Ataxia, Decreased response to growth hormone stimuation test OMIM:601853
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Hyperactivity OMIM:275000
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Restrictive ventilatory defect, Iridocyclitis, Dyspnea, Bron... OMIM:181000
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Secondary Intestinal Lymphangiectasia
Pleural effusion, Recurrent skin infections, Arthritis ORPHA:90363
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity OMIM:271980
Infantile Neuroaxonal Dystrophy
Dystonia, Psychomotor deterioration, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity, Ment... ORPHA:35069
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Hemophilia A
Joint hemorrhage, Osteoarthritis OMIM:306700
Zika Virus Disease
Skin rash, Myelitis, Maculopapular exanthema, Conjunctivitis, Ankle swelling, Encephalitis, Wrist... ORPHA:448237
Biotinidase Deficiency
Skin rash, Seborrheic dermatitis, Apnea, Conjunctivitis, Tachypnea, Recurrent skin infections OMIM:253260
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Panniculitis, Flexion contracture, Conjunctivitis, Sinusitis, Myositis, Arthritis OMIM:617591
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Hyp... ORPHA:90796
Adiposis Dolorosa
Recurrent skin infections, Anxiety, Arthritis ORPHA:36397
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Behçet Disease
Endocarditis, Pericarditis, Pleuritis, Increased inflammatory response, Retrobulbar optic neuriti... ORPHA:117
Hypogonadotropic hypogonadism, Abnormality of temperature regulation, Irritability ORPHA:848
Multiple Osteochondromas
Genu valgum, Osteolysis, Anteverted nares, Elbow dislocation, Synostosis of joints, Madelung defo... ORPHA:321
Anterior Cutaneous Nerve Entrapment Syndrome
Somatic sensory dysfunction, Hyperesthesia, Impaired tactile sensation, Allodynia ORPHA:51890
Peritonitis, Skin rash, Folliculitis, Osteolysis, Pericarditis, Respiratory distress, Parenchymal... ORPHA:228123
Moderate Hemophilia A
Joint hemorrhage, Joint swelling, Synovitis, Hip contracture, Limitation of joint mobility, Arthr... ORPHA:169805
Juvenile Dermatomyositis
Skin rash, Restrictive ventilatory defect, Dyspnea, Pericarditis, Pulmonary fibrosis, Cough, Myos... ORPHA:93672
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis, Decreased nerve conduction velocity ORPHA:397744
Limited elbow extension, Genu valgum, Irregular carpal bones, Limited hip extension, Joint laxity... OMIM:177170
Symptomatic Form Of Hemochromatosis Type 1
Osteoporosis, Joint swelling, Apathy, Stiff interphalangeal joints, Joint stiffness, Arthropathy,... ORPHA:465508
Lesch-Nyhan Syndrome
Gout ORPHA:510
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea OMIM:614857
Clcn4-Related X-Linked Intellectual Disability Syndrome
Chorea, Unsteady gait, Progressive cerebellar ataxia, Hyperactivity ORPHA:485350
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Delayed epiphyseal ossification, Joint laxity, Laryngeal steno... ORPHA:93352
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Bradykinesia, Dysmetria, Hyperactivity, Mental... OMIM:610217
Primary Sjögren Syndrome
Thyroiditis, Optic neuritis, Chronic hepatitis, Lymphocytic interstitial pneumonia, Myositis, Pol... ORPHA:289390
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Tachypnea, Necrotizing enterocolitis, Respiratory arrest OMIM:201475
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Dementia, Gait disturbance, Ataxia, Motor deterioration, Hyperactivity, Mental... ORPHA:168491
Osteoporosis, Seborrheic dermatitis, Osteolysis, Joint swelling, Eczematoid dermatitis, Limitatio... ORPHA:2796
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Hemophilia B
Joint hemorrhage, Osteoarthritis OMIM:306900
Localized Scleroderma
Esophagitis, Abnormality on pulmonary function testing, Sclerosis of finger phalanx, Flexion cont... ORPHA:90289
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Intermittent hyper... ORPHA:348
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Lymphopenia, Impaired oxidative burst, Granuloma, Perianal abscess, Splenomegal... OMIM:618935
Pericarditis, Pneumonia, Anterior uveitis, Myocarditis, Osteomyelitis, Endocarditis, Arthritis, L... ORPHA:1304
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Goodpasture Syndrome
Ground-glass opacification, Restrictive ventilatory defect, Pulmonary hemorrhage, Reticular patte... OMIM:233450
Psoriasis 14, Pustular
Pustule, Cholangitis, Oligoarthritis, Polyarticular arthritis, Psoriasiform dermatitis OMIM:614204
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Broad-based gait, Hyperactivity OMIM:300958
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Peritonitis, Pustule, Endocarditis, Pericarditis, Pyelonephritis, Arteritis, Respiratory distress... ORPHA:533
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Hypsarrhythmia, Apathy, Acute pancreatitis, EEG abnormality, Tachypnea ORPHA:20
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Anteverted nares, Abnormal joint morphology, Abnormally ossified vertebrae, Oste... ORPHA:1427
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Dyspnea, Joint swelling, Respiratory distress, Pulmonary fi... ORPHA:3260
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
X-Linked Creatine Transporter Deficiency
Dystonia, Chorea, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation ORPHA:98757
Giant Cell Arteritis
Pericarditis, Abnormal pleura morphology, Cough, Epistaxis, Joint stiffness, Recurrent pharyngiti... ORPHA:397
Systemic Sclerosis
Dyspnea, Pericarditis, Joint swelling, Pulmonary fibrosis, Flexion contracture, Osteolytic defect... ORPHA:90291
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Pneumonia, Tachypnea, Inflammatory abnormality of the skin ORPHA:26793
Joubert Syndrome With Oculorenal Defect
Tachypnea, Prominent nasal bridge, Apnea, Anteverted nares ORPHA:2318
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Diabetes mellitus, Hyperactivity OMIM:614613
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Progressive language deterioration OMIM:610042
Hemophilia A With Vascular Abnormality
Joint hemorrhage, Osteoarthritis OMIM:306800
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Ethylene Glycol Poisoning
Episodic respiratory distress, Euphoria, Gastritis, Pulmonary edema, Abnormal pattern of respirat... ORPHA:31826
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Abnormal sacroiliac joint morphology, Recurrent pharyngitis, Pleuritis, P... ORPHA:32960
Hyperthyroidism, Nonautoimmune
Goiter, Hyperthyroidism, Thyroid hyperplasia, Hyperactivity OMIM:609152
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Irritability, Respiratory insufficiency, Atelectasis OMIM:618278
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis OMIM:612260
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Crackles, Pulmonary venous hypertension, Intercosta... ORPHA:1329
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Chronic oral candidiasis, Wide nasal bridge, Neonatal respiratory distress, Depressed nasal bridg... ORPHA:221139
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Bulbous nose, Flexion contracture, Premature osteoarthritis, Recurrent pneumonia... OMIM:215150
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Erythroderma, Glomerulonephritis, Hepatitis, Eczema, Arthritis OMIM:304790
Cocaine Intoxication
Wheezing, Respiratory distress, Cough, Colitis, Diffuse alveolar hemorrhage, Glomerulonephritis, ... ORPHA:90068
Tachypnea, Aspiration pneumonia, Irritability, Hyperventilation ORPHA:173
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Recurrent aphthous stomatitis, Limitation of joint mobility, Arthritis ORPHA:343
Myoclonic-Astatic Epilepsy
Unsteady gait, Attention deficit hyperactivity disorder, Ataxia, Hyperactivity ORPHA:1942
Gaucher Disease Type 1
Osteolysis, Increased bone mineral density, Abnormal pulmonary interstitial morphology, Pathologi... ORPHA:77259
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Cervical subluxation, Arthritis OMIM:184100
Joubert Syndrome 1
Self-mutilation, Aggressive behavior, Episodic tachypnea, Central apnea, Anteverted nares, Neonat... OMIM:213300
Fragile X Syndrome
Hyperactivity OMIM:300624
Joubert Syndrome
Apnea, Anteverted nares, Episodic tachypnea, Abnormal pattern of respiration, Prominent nasal bridge ORPHA:475
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Gout, Recurrent respiratory infections, Arthritis ORPHA:411543
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Serotonin Syndrome
Tachypnea, Irritability, Anxiety ORPHA:43116
Blau Syndrome
Skin rash, Camptodactyly of finger, Iridocyclitis, Pericarditis, Joint swelling, Dyspnea, Retrobu... ORPHA:90340
Inflammation of the large intestine, Skin rash, Chapped lip, Endocarditis, Respiratory distress, ... ORPHA:707
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout OMIM:617056
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent aspiration pneumonia, Apnea, Recurrent respiratory infections, Chronic lung disease, Ta... ORPHA:397715
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Ataxia, Hyperactivity OMIM:614104
Familial Mediterranean Fever
Peritonitis, Pleuritis, Pericarditis, Pleural effusion, Orchitis, Erysipelas, Crohn's disease, Ar... OMIM:249100
Skin rash, Pneumonia, Juvenile rheumatoid arthritis, Hepatitis, Arthritis ORPHA:1855
47,Xyy Syndrome
Hyperactivity, Increased circulating gonadotropin level, Attention deficit hyperactivity disorder... ORPHA:8
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Exertional dyspnea, Decreased pulmonary function, Hemoptysis, Pulmonary arterial hyperte... ORPHA:99106
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Joint laxity, Rickets, Cough, Emphysema, Respiratory insufficiency, Abnormal pulmonary... OMIM:613658
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Fatigable weakness of skeletal muscles, Hyperactivity ORPHA:166108
Intervertebral disc degeneration, Limited hip movement, Limitation of knee mobility, Limited shou... OMIM:203500
Peritonitis, Acute colitis, Uveitis, Pneumonia, Ulcerative colitis, Conjunctivitis, Myocarditis, ... ORPHA:810
Cryoglobulinemic Vasculitis
Viral hepatitis, Keratoconjunctivitis sicca, Arthritis ORPHA:91138
Brain-Lung-Thyroid Syndrome
Compensated hypothyroidism, Dystonia, Hypoparathyroidism, Chorea, Elevated circulating thyroid-st... ORPHA:209905
Stickler Syndrome, Type I
Anteverted nares, Osteoarthritis, Arthropathy, Depressed nasal bridge OMIM:108300
Beta-Ketothiolase Deficiency
Apathy, Cough, Tachypnea ORPHA:134
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea OMIM:615751
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity ORPHA:530983
Familial Gestational Hyperthyroidism
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:99819
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Respiratory failure requiring assisted ventilation, Respirator... ORPHA:555874
Pericarditis, Chondrocalcinosis, Pulmonary fibrosis, Respiratory insufficiency, Abnormal pulmonar... ORPHA:221
Congenital Tufting Enteropathy
Choanal atresia, Irritability, Punctate keratitis, Arthritis ORPHA:92050
Double Outlet Right Ventricle
Pulmonary artery atresia, Tachypnea, Depressed nasal bridge ORPHA:3426
Joubert Syndrome 35
Abnormality of temperature regulation OMIM:618161
Catastrophic Antiphospholipid Syndrome
Pulmonary arterial hypertension, Arthritis, Pulmonary embolism, Myocarditis ORPHA:464343
Glycogen Storage Disease Vii
Gout OMIM:232800
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Thyrotoxic... ORPHA:525731
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:424
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout OMIM:618061
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Abnormal emotion/affect behavior, Abnormality of lower limb joint, Septic arthri... ORPHA:642
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Dyspnea, Chronic pulmonary obstruction, Chronic otitis media... ORPHA:906
Joubert Syndrome 2
Episodic tachypnea, Central apnea, Neonatal breathing dysregulation, Depressed nasal bridge OMIM:608091
Prostatitis, Joint swelling, Reduced bone mineral density, Joint stiffness, Joint dislocation, Os... ORPHA:56
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Immunoglobulin A Vasculitis
Skin rash, Pustule, Restrictive ventilatory defect, Orchitis, Episcleritis, Encephalitis, Arthritis ORPHA:761
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Hyperactivity OMIM:609727
Hyperparathyroidism, Neonatal Severe
Dyspnea, Tachypnea, Recurrent fractures OMIM:239200
Wilson Disease
Osteoporosis, Joint hypermobility, Chondrocalcinosis, Osteomalacia, Atypical or prolonged hepatit... OMIM:277900
Multiple Epiphyseal Dysplasia Type 4
Genu valgum, Delayed femoral head ossification, Flexion contracture, Contracture of the proximal ... ORPHA:93307
Oculocerebrorenal Syndrome Of Lowe
Genu valgum, Joint swelling, Joint hyperflexibility, Self-injurious behavior, Chronic otitis medi... ORPHA:534
Trichorhinophalangeal Syndrome, Type I
Pear-shaped nose, Ivory epiphyses of the distal phalanges of the hand, Osteopenia, Osteoarthritis... OMIM:190350
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Choreoathetosis, Dementia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykine... OMIM:234200
Familial Mediterranean Fever
Peritonitis, Skin rash, Pleuritis, Pericarditis, Orchitis, Erysipelas, Pancreatitis, Osteoarthrit... ORPHA:342
Kawasaki Disease
Skin rash, Pericarditis, Cheilitis, Abnormal pulmonary interstitial morphology, Conjunctivitis, H... ORPHA:2331
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Hyperactivity OMIM:252920
Chronic Graft Versus Host Disease
Wheezing, Dyspnea, Bronchiectasis, Urinary bladder inflammation, Cough, Flexion contracture, Pleu... ORPHA:99921
Gaucher Disease
Arthrogryposis multiplex congenita, Osteolysis, Pulmonary fibrosis, Recurrent fractures, Respirat... ORPHA:355
Sweet Syndrome
Inflammation of the large intestine, Pustule, Panniculitis, Oligoarthritis, Myositis, Acne invers... ORPHA:3243
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Osteoarthritis, Genu varum OMIM:602111
Marshall Syndrome
Genu valgum, Short nose, Anteverted nares, Hypoplastic frontal sinuses, Wide nasal bridge, Osteoa... ORPHA:560
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Hypothyroidism, Hyperactivity, Diabetes mellitus, Hyperthyroidism, Attention deficit hyperactivit... ORPHA:449291
Hereditary Xanthinuria
Gout, Rheumatoid arthritis, Arthropathy ORPHA:3467
Fabry Disease
Dyspnea, Chronic pulmonary obstruction, Emphysema, Respiratory insufficiency, Reduced bone minera... ORPHA:324
Mucopolysaccharidosis Type 2
Sleep apnea, Aggressive behavior, Recurrent upper respiratory tract infections, Hip osteoarthriti... ORPHA:580
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Osteoarthritis, Osteomalacia OMIM:307800
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paraganglioma, Elevated circulating catecho... ORPHA:892
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Recurrent otitis media, Panniculitis, Recurrent sinusitis, Hashimoto thyroiditis, Ecze... OMIM:615688
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Seborrheic dermatitis, Chronic pulmonary obstruction, Bulbous nose, Joint... ORPHA:567
X-Linked Hypophosphatemia
Genu valgum, Craniosynostosis, Sacroiliac joint synovitis, Rickets, Generalized osteosclerosis, E... ORPHA:89936
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Abnormality of temperature regulation, Hypothermia, Fever OMIM:618493
Mucopolysaccharidosis, Type Iiic
Motor deterioration, Hyperactivity OMIM:252930
Mucopolysaccharidosis Type 2, Severe Form
Camptodactyly of finger, Restrictive ventilatory defect, Sleep apnea, Recurrent upper respiratory... ORPHA:217085
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Mucopolysaccharidosis Type 2, Attenuated Form
Camptodactyly of finger, Restrictive ventilatory defect, Sleep apnea, Recurrent upper respiratory... ORPHA:217093
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Gait imbalance, Ataxia, Hyperactivity ORPHA:98794
Hyper-Igd Syndrome
Skin rash, Chronic oral candidiasis, Lymphadenitis, Serositis, Arthritis OMIM:260920
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Hyperactivity OMIM:103050
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Decreased circulating renin level, Decreased circulati... ORPHA:320
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility OMIM:313400
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Granulomatosis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Granulomatosis OMIM:233710
Citrullinemia Type Ii
Hyperactivity, Memory impairment, Lethargy, Delayed menarche ORPHA:247585
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity OMIM:300486
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation OMIM:619173
Autoimmune Lymphoproliferative Syndrome
Pulmonary fibrosis, Thyroiditis, Panniculitis, Uveitis, Colitis, Glomerulonephritis, Hepatitis, G... ORPHA:3261
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
Medullary cystic kidney disease 2
Gout, Tubulointerstitial nephritis OMIM:603860
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Respiratory tract infection, Dyspnea, Pleuritis, Pneumonia, Septic arthritis, Pleu... ORPHA:544482
Pyruvate Carboxylase Deficiency
Apathy, Tachypnea, Abnormal pattern of respiration ORPHA:3008
Granulomatous Disease, Chronic, X-Linked
Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Granulomatosis OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Granulomatosis OMIM:233690
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout OMIM:300661
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Osteoporosis, Thyroiditis, Periodontitis, Ulcerative colitis... ORPHA:79259
Hypermobile Ehlers-Danlos Syndrome
Wormian bones, Apnea, Osteolysis, Elbow dislocation, Joint hyperflexibility, Keratoconjunctivitis... ORPHA:285
Hair-pulling, Decreased amplitude of sensory action potentials, Aggressive behavior, Apathy, Self... ORPHA:2388
Loeys-Dietz Syndrome 5
Joint hypermobility, Congenital finger flexion contractures, Flexion contracture of toe, Prominen... OMIM:615582
Cockayne Syndrome Type 1
Abnormality of temperature regulation, Tremor, Male hypogonadism ORPHA:90321
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Deeah Syndrome
Self-mutilation, Panhypopituitarism, Decreased circulating free T4 level, Anterior pituitary hypo... OMIM:619004
Sitosterolemia 1
Arthritis OMIM:210250
African Trypanosomiasis
Abnormality of renin-angiotensin system, Abnormal growth hormone level, Tremor, Aggressive behavi... ORPHA:3385
Machado-Joseph Disease Type 1
Abnormality of temperature regulation ORPHA:276238
Machado-Joseph Disease Type 2
Abnormality of temperature regulation ORPHA:276241
Osteogenesis Imperfecta
Osteoporosis, Joint hypermobility, Wormian bones, Genu valgum, Protrusio acetabuli, Dislocated ra... ORPHA:666