Gene: Met MGI:96969

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
met proto-oncogene
Synonyms:
HGF receptor,  c-Met,  Par4

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Met 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.

The table below shows human diseases associated to Met by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Renal Cell Carcinoma, Papillary, 1
Papillary renal cell carcinoma OMIM:605074
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia OMIM:607278
Deafness, Autosomal Recessive 97
OMIM:616705

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Respiratory insufficiency, Neonatal death, Multiple joint con... OMIM:611369
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Fibromatosis, Gingival, 1
Gingival fibromatosis OMIM:135300
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Arthrogryposis multiplex congenita, Decreased muscle mass, Respiratory insufficiency, Distal arth... OMIM:208081
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer OMIM:135290
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Cheilitis Glandularis
Neoplasm, Abnormal salivary gland morphology, Squamous cell carcinoma ORPHA:1221
Lethal Congenital Contracture Syndrome 4
Flexion contracture, Respiratory insufficiency, Distal arthrogryposis, Multiple joint contracture... OMIM:614915
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Alopecia, Squamous cell carcinoma, Multinodular goiter OMIM:618373
Hereditary Gingival Fibromatosis
Gingival fibromatosis ORPHA:2024
Fibromatosis, Gingival, With Progressive Deafness
Gingival fibromatosis OMIM:135550
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Proximal muscle weakness in lower limbs, Scapular winging, Respiratory insufficiency OMIM:617232
Fibromatosis, Gingival, 5
Gingival fibromatosis OMIM:617626
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Proximal amyotrophy, Respiratory insufficiency, Proximal muscle weakness... OMIM:253300
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Abnormal respiratory system physiology, Increased... ORPHA:266
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Spinocerebellar Ataxia Type 41
Gait ataxia, Cerebellar vermis atrophy ORPHA:458798
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Squa... OMIM:613736
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Lower limb muscle weakness, Spastic paraparesis OMIM:182610
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Sparse hair, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma OMIM:224750
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Sparse hair, Ovarian neoplasm, Alopecia, Aplasia/Hypoplasia of the eyebrow,... ORPHA:50944
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Ovarian cyst, Neoplasm of the rectum, Endometrial car... ORPHA:454840
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Muscular Dystrophy, Congenital, 1B
Pectoralis amyotrophy, Congenital muscular dystrophy, Achilles tendon contracture, Shoulder girdl... OMIM:604801
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Muscular dystrophy, Flexion contracture, Respiratory insufficiency, Respiratory failure OMIM:613869
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia, Cerebellar vermis atrophy ORPHA:211017
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Glaucoma-Sleep Apnea Syndrome
Sleep apnea, Respiratory insufficiency ORPHA:2085
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Autosomal Recessive Spastic Paraplegia Type 43
Flexion contracture of finger, Spastic paraparesis, Poor fine motor coordination, Spastic gait, D... ORPHA:320370
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia OMIM:616410
Dyskeratosis Congenita, Autosomal Recessive 3
Squamous cell carcinoma, Nail dystrophy OMIM:613988
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
N Syndrome
Neoplasm, Hypospadias, Leukemia, Abnormality of chromosome stability OMIM:310465
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Pontocerebellar Hypoplasia, Type 1C
Spinal muscular atrophy, Flexion contracture, Respiratory insufficiency, Respiratory failure, Ske... OMIM:616081
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Squamous cell carcinoma, Melanoma ORPHA:90342
Paraneoplastic Pemphigus
Thymoma, Sarcoma, B-cell lymphoma ORPHA:63455
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Nemaline Myopathy 8
Flexion contracture, Death in infancy, Nemaline bodies, Facial palsy, Respiratory failure, Myofib... OMIM:615348
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Chromosomal Instability With Tissue-Specific Radiosensitivity
Neoplasm, Abnormality of chromosome stability OMIM:215510
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615957
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Hypertonia, Postnatal growth retardation OMIM:614023
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:117210
Congenital unilateral pulmonary hypoplasia
Congenital diaphragmatic hernia ORPHA:2258
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory insufficiency,... OMIM:300717
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma ORPHA:454
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy OMIM:605388
Macroglossia
Macroglossia OMIM:153630
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Milroy Disease
Hydrocele testis, Angiosarcoma, Neoplasm of the skin ORPHA:79452
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, Atopic dermatitis, Recurrent bacterial skin infections, Chronic ot... ORPHA:217390
Spinocerebellar Ataxia, Autosomal Recessive 24
Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617133
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Nocturnal hypoventilation, Quadriceps muscle weakness, Pelvic girdle muscle wea... OMIM:603689
Ichthyosis, Hystrix-Like, With Deafness
Absent eyelashes, Scarring alopecia of scalp, Sparse and thin eyebrow, Squamous cell carcinoma, S... OMIM:602540
Mast Syndrome
Spastic paraplegia, Apraxia, Spastic paraparesis, Lower limb muscle weakness, Babinski sign OMIM:248900
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Synovitis, Abnormal glomerular mesangium morphology, Glomerulonep... ORPHA:567544
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Distal amyotrophy, Foot dorsiflexor weakness, Upper limb muscle weakness OMIM:302802
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Hand mu... OMIM:607641
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Short stature OMIM:312910
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Truncal ataxia OMIM:615268
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Nephrotic syndrome OMIM:613779
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Respi... OMIM:609524
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Death in infancy, Neonatal death, Nemaline bodies, Death in c... OMIM:619334
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Gait ataxia, Impaired vibratory sensation ORPHA:217012
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Ataxia OMIM:619333
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Maffucci Syndrome
Neoplasm of the parathyroid gland, Goiter, Chondrosarcoma, Ovarian neoplasm, Hemangiomatosis, Mul... ORPHA:163634
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Sprengel Deformity
Abnormality of the shoulder girdle musculature, Shoulder muscle hypoplasia, Torticollis ORPHA:3181
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Paraparesis, Ataxia, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Spastic paraparesis, Babinski sign OMIM:613672
Spinocerebellar Ataxia 46
Positive Romberg sign, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria OMIM:617770
Large Congenital Melanocytic Nevus
Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma, Generalized hirsutism, Neoplasm of the skin ORPHA:626
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Colitis, Nephrotic syndrome, Minimal change glomerulonephritis,... OMIM:617006
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents, T-cell acute lymphob... OMIM:605724
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma ORPHA:357154
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Epidermodysplasia Verruciformis
Pustule, Seborrheic dermatitis, Verrucae, Recurrent skin infections, Squamous cell carcinoma ORPHA:302
Radial-Renal Syndrome
Chromosome breakage, Unilateral renal agenesis, Ectopic kidney OMIM:179280
Ollier Disease
Hemangioma, Chondrosarcoma, Multiple enchondromatosis, Neoplasm, Sarcoma, Visceral angiomatosis, ... ORPHA:296
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Spastic Paraparesis-Deafness Syndrome
Hemiplegia/hemiparesis, Ataxia, Spastic paraparesis, Short stature ORPHA:2815
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Dyspnea, Cough, Respiratory failure requiring assisted ... ORPHA:90117
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Spastic Paraplegia 2, X-Linked
Spastic paraplegia, Spastic paraparesis, Flexion contracture, Lower limb muscle weakness, Lower l... OMIM:312920
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Mast Cell Sarcoma
Sarcoma ORPHA:66661
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Cerebellar atrophy, Gait ataxia ORPHA:423296
Epidermodysplasia Verruciformis, Susceptibility To, 5
Verrucae, Squamous cell carcinoma of the skin OMIM:618309
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Liposarcoma
Sarcoma ORPHA:69078
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Paraparesis, Tetraparesis, Parkinsonism, Skeletal muscle atrophy, Extrapyramidal dyskinesia OMIM:105550
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Carcinoid tumor, Brain neoplas... ORPHA:79140
Xeroderma Pigmentosum, Variant Type
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma OMIM:278750
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Nail dystrophy, Carcinoma OMIM:615225
Fanconi Anemia, Complementation Group G
Myelodysplasia, Abnormality of chromosome stability, Leukemia OMIM:614082
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Tumor Predisposition Syndrome
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma OMIM:614327
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Arthrogryposis multiplex congenita, Respiratory insuffici... OMIM:611890
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Hand muscle weakness, Incoordination, Hand tremor, Paraparesis, Achilles tendon contractu... OMIM:302800
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Upper limb spasticity, Camptodactyly, Flexion contractur... OMIM:275900
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Dysmetria OMIM:616291
Cowden Syndrome 7
Hemangioma, Ductal carcinoma in situ, Goiter, Intestinal polyposis, Breast carcinoma, Trichilemmo... OMIM:616858
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spinal muscular atrophy, Spastic ataxia, Spastic tetraparesis, Distal amyotrophy, Progressive spa... ORPHA:496756
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Abnormality of the liver ORPHA:132
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Porokeratosis 1, Multiple Types
Abnormality of chromosome stability, Neoplasm of the skin OMIM:175800
Placental Insufficiency
Maternal hypertension, Preeclampsia, Eclampsia, Intrauterine growth retardation, Abnormal placent... ORPHA:439167
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Tremor, Paraparesis, Ataxia ORPHA:99014
C1Q Deficiency
Membranoproliferative glomerulonephritis OMIM:613652
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Frontotemporal Dementia With Motor Neuron Disease
Apraxia, Abnormality of extrapyramidal motor function, Paraparesis, Tetraparesis, Weakness due to... ORPHA:275872
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Respiratory insuff... OMIM:614399
Necrobiosis Lipoidica
Squamous cell carcinoma ORPHA:542592
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculatur... ORPHA:2926
Infantile Myofibromatosis
Gingival fibromatosis, Abnormal hair morphology, Benign neoplasm of the central nervous system, F... ORPHA:2591
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... ORPHA:220460
Laryngeal Abductor Paralysis
Respiratory insufficiency ORPHA:2808
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Restrictive ventilatory defect, Exertional dyspnea, Hip flexor weak... ORPHA:98913
Poirier-Bienvenu Neurodevelopmental Syndrome
Protruding tongue, Downturned corners of mouth, Smooth philtrum, Open mouth OMIM:618732
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Uveitis, Reversible renal failure, Glomerulonephritis, Anterior uveitis, Acute tubulo... OMIM:607665
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Agenesis of the diaphragm, Cleft upper lip OMIM:601027
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Arthrogryposis multiplex congenita, Flexion contracture, Respiratory insufficiency due to muscle ... OMIM:618291
Fanconi Anemia, Complementation Group N
Medulloblastoma, Nephroblastoma, Chromosomal breakage induced by crosslinking agents, Neuroblastoma OMIM:610832
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:613913
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Respiratory insufficiency, Type 1 muscle fiber predominance, Distal a... OMIM:619042
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Respiratory failure, Limb muscle weakness OMIM:600561
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Hematuria OMIM:314000
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Spinal muscular atrophy, Respiratory distress, Ventilator dependence with inability to wean, Resp... ORPHA:254875
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Flexion contracture, Type 1 mus... ORPHA:171433
Huriez Syndrome
Nail dystrophy, Squamous cell carcinoma of the skin OMIM:181600
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy, Congenital contracture OMIM:225753
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Agenesis of cerebe... OMIM:117360
Autosomal Dominant Spastic Paraplegia Type 73
Spastic gait, Lower limb spasticity, Distal lower limb amyotrophy, Distal lower limb muscle weakn... ORPHA:444099
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Leg muscle stiffness, Parkinsonism with favorable response to dopamin... OMIM:606693
Desmoid Tumor
Fibroma, Desmoid tumors, Hydronephrosis, Intestinal polyposis, Abnormality of the upper urinary t... ORPHA:873
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy, Respiratory insufficiency OMIM:616314
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:608709
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal muscular atrophy, Abnormal lower motor neuron morphology, Scapuloperoneal amyotrophy, Resp... OMIM:611067
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Spinal muscular atrophy, Ventilator dependence with inability to wean, I... OMIM:604320
Bloom Syndrome
Abnormality of chromosome stability, Bronchiectasis, Lymphoma, Malar rash, Leukemia, Squamous cel... OMIM:210900
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Gait ataxia, Ataxia ORPHA:98769
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis ORPHA:101005
Porokeratosis
Squamous cell carcinoma of the skin ORPHA:79358
X-Linked Charcot-Marie-Tooth Disease Type 3
Tremor, Hand muscle weakness, Intrinsic hand muscle atrophy, Spastic paraparesis, Proximal muscle... ORPHA:101077
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Moderately short stature, Tetraplegia/tetraparesis, Progressive spastic paraparesis, Ankle clonus... ORPHA:506353
Meige Disease
Angiosarcoma ORPHA:90186
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:253310
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia OMIM:616187
Congenital Muscular Dystrophy With Intellectual Disability
Skeletal muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Respiratory insufficiency, ... ORPHA:370968
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Nemaline Myopathy 1
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Flexion contracture, Respiratory in... OMIM:609284
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis ORPHA:231445
Burning Mouth Syndrome
Tongue pain, Parageusia, Xerostomia, Abnormality of the gingiva, Abnormality of taste sensation, ... ORPHA:353253
Nemaline Myopathy 5
Proximal amyotrophy, Respiratory insufficiency, Type 1 muscle fiber predominance, Z-band streamin... OMIM:605355
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria OMIM:613728
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
C3 Glomerulopathy
Hematuria, Acute kidney injury, Membranoproliferative glomerulonephritis, Chronic kidney disease,... ORPHA:329918
Werner Syndrome
Ovarian neoplasm, Premature graying of hair, Neoplasm, Breast carcinoma, Melanoma, Abnormal hair ... ORPHA:902
Spinocerebellar Ataxia 4
Progressive cerebellar ataxia, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment OMIM:600223
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating alanine aminotransferase concentration, Death in infancy, Respiratory insuff... OMIM:245400
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Sarcoma, Neoplasm of the lung, Testicul... ORPHA:83469
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Chromosome breakage OMIM:181750
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Intestinal malrotation, Abnormal ... ORPHA:3032
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Weakness of facial musculature OMIM:618637
Exostoses, Multiple, Type Ii
Scapular exostoses, Rib exostoses, Chondrosarcoma, Pelvic bone exostoses OMIM:133701
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Abnormal respiratory system physiology, Internally... ORPHA:98905
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Pleuropulmonary Blastoma
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:601200
Schisis Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:63862
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Immunodeficiency 54
Lymphoproliferative disorder, Chromosome breakage OMIM:609981
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Cerebellar atrophy, Ataxia OMIM:617917
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Sarcoma, Neoplasm of the liver ORPHA:69077
Exostoses, Multiple, Type I
Scapular exostoses, Rib exostoses, Chondrosarcoma, Pelvic bone exostoses OMIM:133700
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
Pheochromocytoma, Carcinoid tumor, Neurofibromas OMIM:162240
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion contracture, Lower l... ORPHA:496689
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Respiratory failure OMIM:616794
Mental Retardation, Autosomal Dominant 56
Paraparesis, Ataxia, Spasticity OMIM:617854
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Spinocerebellar Ataxia 23
Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Dy... OMIM:610245
Hereditary Breast And Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Primary peritoneal carcinoma, Breast carcinoma, Neoplasm of th... ORPHA:145
Fanconi Anemia, Complementation Group P
Horseshoe kidney, Squamous cell carcinoma, Pelvic kidney OMIM:613951
Congenital Pulmonary Veins Atresia Or Stenosis
Respiratory insufficiency ORPHA:3188
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:612530
Ovarian Fibrothecoma
Abnormality of the ovary, Fibrosarcoma, Hirsutism, Diffuse leiomyomatosis, Ovarian fibroma ORPHA:314478
Actinic Prurigo
Glomerulonephritis, Pyoderma, Cheilitis OMIM:174770
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Respiratory insufficiency, Proximal amyotrophy OMIM:612999
Congenital Macroglossia
Neurofibromas ORPHA:2430
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Intrinsic hand muscle atrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, U... ORPHA:90103
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Neonatal respir... OMIM:616867
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia ORPHA:1166
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Congenital diaphragmatic hernia OMIM:614294
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Glossoptosis, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Sprengel Deformity
Shoulder muscle hypoplasia, Neck muscle hypoplasia OMIM:184400
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Respiratory insuffi... OMIM:605253
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Death in infancy, Respiratory insufficiency, Hepatomegaly, Respiratory failure, Optic atrophy OMIM:614299
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ovarian neoplasm, Breast carcinoma OMIM:617883
Spinocerebellar Ataxia Type 26
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar a... ORPHA:101112
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Hamstring contractures, Pneumonia, Respiratory insuffi... ORPHA:97244
Cebalid Syndrome
Polymicrogyria, Congenital diaphragmatic hernia OMIM:618774
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Spastic paraparesis, Progressive gait ataxia, Lower limb hypertonia, Progressive cerebellar ataxi... ORPHA:254343
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Renal cell carcinoma, Cuta... OMIM:150800
Hartnup Disorder
Glossitis OMIM:234500
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Cogwheel rigidity, Gait ataxia, Chorea, Hypertonia, Abnormal pyramidal sign, Tetraparesis, Parapa... OMIM:607483
Hyperekplexia 4
Camptodactyly, Flexion contracture, Respiratory failure, Distal arthrogryposis OMIM:618011
Amyotrophic Lateral Sclerosis 5, Juvenile
Respiratory insufficiency due to muscle weakness, Distal amyotrophy, Abnormal lower motor neuron ... OMIM:602099
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Hodgkin lymphoma, Thyroiditis OMIM:619375
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Di... OMIM:617633
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Cerebellar atrophy, Truncal ataxia, Ataxia OMIM:616948
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle atrophy, Scapular winging, Shoulder girdle muscle weakness, Facial palsy, ... OMIM:158900
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:616730
Spinocerebellar Ataxia Type 35
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar atrophy, Dysmetria ORPHA:276193
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Carcinoma, Renal angiomyolipoma, Carcinoid tumor, Hashimoto thyroidit... OMIM:610755
Hypertrichosis-Acromegaloid Facial Appearance Syndrome
Everted lower lip vermilion, Thick vermilion border, Furrowed tongue, Gingival overgrowth, Oral s... ORPHA:966
Recurrent Respiratory Papillomatosis
Squamous cell carcinoma ORPHA:60032
Epilepsy, Progressive Myoclonic, 9
Microglossia, Generalized amyotrophy OMIM:616540
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Limb muscle weakness, Abnormal lower motor neuron morphol... OMIM:614373
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus OMIM:604213
Lissencephaly, X-Linked, 1
Ataxia, Death in infancy, Postnatal growth retardation, Spasticity OMIM:300067
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Hydrolethalus Syndrome 1
Polyhydramnios, Agenesis of the diaphragm, Stillbirth, Cleft palate, Intrauterine growth retardat... OMIM:236680
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Glossoptosis, Mandibular... OMIM:614669
Papillon-Lefèvre Syndrome
Severe periodontitis, Pustule, Periodontitis, Squamous cell carcinoma, Chronic furunculosis, Recu... ORPHA:678
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Autoimmune Lymphoproliferative Syndrome, Type Iii
Lymphoproliferative disorder, Recurrent otitis media, Recurrent sinusitis, Recurrent urinary trac... OMIM:615559
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure, Intrauterine growth ret... OMIM:619057
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:2143
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Torticol... ORPHA:99
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Respiratory failure, Elevated hepatic transaminase ORPHA:890
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Intercostal muscle weakness, Hand muscle atrophy, Distal amyotrop... OMIM:606071
Normokalemic Periodic Paralysis
Abnormality of the tongue OMIM:170600
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Abnormal lower motor neuron morphology, Respiratory insufficiency due... ORPHA:2590
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency, Generalized amyotrop... OMIM:612954
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm OMIM:618901
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cough, Respiratory failure, Respiratory distress OMIM:263000
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Hepatic steatosis, Amyotrophic lateral sclerosis, Cranial nerve com... ORPHA:52430
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Respiratory insufficiency, Type 1 muscle fiber predo... OMIM:618654
Multiple Mitochondrial Dysfunctions Syndrome 3
Arthrogryposis multiplex congenita, Respiratory insufficiency, Polymicrogyria, Respiratory failur... OMIM:615330
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Abnormality of chromosome stability, Chromosome breakage OMIM:208910
Primary Angiitis Of The Central Nervous System
Paraparesis, Tetraparesis, Hemiparesis, Paralysis, Ataxia, Parkinsonism ORPHA:140989
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Abnormality of neuronal migration ORPHA:2063
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Dysmetria, Intention tremor ORPHA:423275
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Dysmetria, Intention tremor OMIM:616053
Yellow Nail Syndrome
Biliary tract neoplasm, Renal neoplasm, Bronchiectasis, Nephropathy, Neoplasm, Rhinitis, Sarcoma,... ORPHA:662
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Spinocerebellar Ataxia 26
Limb ataxia, Cerebellar atrophy, Gait ataxia, Truncal ataxia OMIM:609306
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Glomerulonephritis, Stage 5 chronic kidney disease, Chronic tubulointerstitial ... OMIM:614376
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Respiratory failure, Knee flexion contracture, Respiratory insufficiency OMIM:313420
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glome... ORPHA:567548
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Birt-Hogg-Dube Syndrome
Fibrofolliculoma, Renal neoplasm, Trichodiscoma, Cutaneous leiomyoma, Renal cell carcinoma, Multi... OMIM:135150
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... ORPHA:598
8P23.1 Duplication Syndrome
Exostoses, Hydronephrosis ORPHA:251076
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Micromelia OMIM:273680
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Abnormal muscle fiber morphology, Arthrogryposis multiple... ORPHA:1145
Alport Syndrome 3, Autosomal Dominant
Renal insufficiency, Hematuria, Glomerulonephritis, Glomerular basement membrane lamellation, Sta... OMIM:104200
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Cerebellar atrophy, Truncal ataxia, Ataxia OMIM:614229
Spinocerebellar Ataxia 19
Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar atrophy OMIM:607346
Rhabdomyosarcoma, Embryonal, 2
Goiter, Pleuropulmonary blastoma, Multinodular goiter, Nephroblastoma, Ovarian thecoma, Embryonal... OMIM:180295
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory insufficiency due to muscle weakness, Generalized amyotrophy, Respiratory fa... ORPHA:352447
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Lisch nodules, Bilateral vestibular Schwannoma, Palmar neurofibromas, Meningioma, Paraspinal neur... OMIM:162260
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Crescentic glomerulonephritis, Arthritis OMIM:616414
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Basal cell carcinoma, Ovarian neoplasm, Pilomatrixoma, Pleuropulmonary... ORPHA:276399
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Abnormality of the mouth, Severe intrauterine growth retardation, Intr... ORPHA:73272
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Respiratory ins... OMIM:160565
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Increased intramyocellular lipid droplets, Spastic paraparesis, Spastic ataxi... OMIM:614487
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia ORPHA:95706
Spinal Muscular Atrophy, X-Linked 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Degeneration of... OMIM:301830
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Spastic paraparesis, Ataxia ORPHA:67047
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinusitis, Pneumonia, Respiratory insuff... OMIM:618695
Ataxia-Oculomotor Apraxia 3
Dysmetria, Cerebellar atrophy, Ataxia, Distal sensory impairment OMIM:615217
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Gastrointestinal Stromal Tumor
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Neoplasm of the rectum, Es... ORPHA:44890
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Abnormality of chromosome stability, Micropenis, Chromosome breakage OMIM:614083
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Bradykinesia, Distal amyotrophy, Spastic tetraplegia, Rigidity OMIM:615643
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Cooper-Jabs Syndrome
Camptodactyly of finger, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:1488
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia OMIM:618022
Fanconi Anemia, Complementation Group E
Chromosomal breakage induced by crosslinking agents, Abnormal renal morphology, Horseshoe kidney,... OMIM:600901
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Respiratory insufficiency OMIM:600333
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Flexion contracture, Diaphragmatic eventratio... OMIM:310400
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dystrophy, Squamous cell carcinoma, Alopecia OMIM:226600
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm OMIM:618238
Familial Adenomatous Polyposis
Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, Fibroma, Neop... ORPHA:733
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
X-Linked Intellectual Disability, Seemanova Type
Hypoplasia of the musculature, Skeletal muscle atrophy ORPHA:85323
Trichothiodystrophy 1, Photosensitive
Basal cell carcinoma, Sparse hair, Tiger tail banding, Brittle hair, Abnormality of hair texture,... OMIM:601675
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:284180
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Death in infancy,... OMIM:619386
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Fanconi Anemia, Complementation Group A
Chromosomal breakage induced by crosslinking agents, Abnormal renal morphology, Horseshoe kidney,... OMIM:227650
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Hepatomegaly, Polymicrogyria, Respiratory failure, Intrauterine growth retardation OMIM:610678
Retinoblastoma
Retinoblastoma, Lymphoma, Osteosarcoma, Pinealoma, Leukemia, Ewing sarcoma OMIM:180200
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Lower-limb metaphyseal irregularity, Postnatal growth retardation, Severe sh... OMIM:618728
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:618348
Chromomycosis
Keratoconjunctivitis sicca, Keratitis, Multiple cutaneous malignancies, Squamous cell carcinoma ORPHA:182
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia ORPHA:63260
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Malar rash, Nephritis, Arthritis OMIM:152700
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Small placenta, Oligohydramnios, Cleft palate ORPHA:397590
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Asbestos Intoxication
Restrictive ventilatory defect, Wheezing, Dyspnea, Late inspiratory crackles, Exertional dyspnea,... ORPHA:2302
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Cerebellar atrophy, Truncal ataxia, Ataxia ORPHA:284271
Adrenoleukodystrophy
Spastic paraplegia, Incoordination, Truncal ataxia, Limb ataxia, Slurred speech, Paraparesis, Low... OMIM:300100
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia OMIM:300978
Spinocerebellar Ataxia, Autosomal Recessive 7
Gait ataxia, Impaired vibratory sensation, Limb ataxia, Ataxia, Cerebellar atrophy OMIM:609270
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Chronic otitis media, Otitis media, Sinusitis ORPHA:908
Orofaciodigital Syndrome V
Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Median cleft lip OMIM:174300
Leukodystrophy, Hypomyelinating, 3
Progressive flexion contractures, Arthrogryposis multiplex congenita, Spastic paraparesis, Abnorm... OMIM:260600
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy OMIM:617248
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Spastic paraparesis, Lower limb muscle weakness, Oculomotor apraxia, Abnormal... ORPHA:313772
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:205100
Fetal Akinesia Deformation Sequence 1
Polyhydramnios, Long philtrum, Camptodactyly of finger, Arthrogryposis multiplex congenita, Short... OMIM:208150
Neurofibromatosis, Type Iv, Of Riccardi
Lisch nodules, Atypical neurofibromatosis OMIM:162270
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma OMIM:278740
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Tuberous Sclerosis 2
Chordoma, Cardiac rhabdomyoma, Gingival fibromatosis, Subungual fibromas, Pulmonary lymphangiomyo... OMIM:613254
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Glossoptosis, Cleft palate ORPHA:166100
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Leg muscle stiffness, Paraparesis, Hemiparesis, Paralysis, Progressiv... ORPHA:43
Oncogenic Osteomalacia
Renal phosphate wasting, Neoplasm of head and neck, Neurofibromas, Hyperphosphaturia, Carcinoma, ... ORPHA:352540
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia OMIM:301022
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Cutis Laxa, Autosomal Recessive, Type Ia
Inguinal hernia, Umbilical hernia, Congenital diaphragmatic hernia OMIM:219100
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Omphalocele, Congenital diaphragmatic hernia OMIM:263210
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... OMIM:606070
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
13Q12.3 Microdeletion Syndrome
Camptodactyly, Congenital diaphragmatic hernia ORPHA:412035
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infections, Enuresis, ... OMIM:236730
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Amyotrophic Lateral Sclerosis
Dyspnea, Abnormal respiratory system physiology, Amyotrophic lateral sclerosis, Respiratory failu... ORPHA:803
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria OMIM:617691
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Hy... OMIM:191800
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Trichiasis, Sparse and thin eyebrow, Squamous cell carcinoma, Nail dystrophy, Sparse eyelashes OMIM:148210
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Ataxia OMIM:616267
Aicardi Syndrome
Hemangioma, Carcinoma, Teratoma, Sparse lateral eyebrow, Lipoma, Metastatic angiosarcoma, Hepatob... OMIM:304050
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Respiratory failure, Myopathy ORPHA:363400
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Ataxia, Postnatal growth retardation, Myoclonus, Choreoath... ORPHA:391417
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Choreoathetosis, Tetraparesis, Ataxia ORPHA:27
Complement Factor I Deficiency
Pyelonephritis, Recurrent otitis media, Recurrent sinusitis, Recurrent urinary tract infections, ... OMIM:610984
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Flexion contracture, Death in infancy, Hepatomegaly, Respiratory failure... ORPHA:1194
X-Linked Charcot-Marie-Tooth Disease Type 2
Tibialis atrophy, Hand muscle weakness, Intrinsic hand muscle atrophy, Spastic paraparesis, Peron... ORPHA:101076
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Ataxia, Bradykinesia, S... OMIM:615157
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Ataxia, Cerebellar atrophy, Cerebellar vermis at... OMIM:616204
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Nemaline bodies, Limb muscle weakness, Respiratory insufficiency OMIM:606842
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Neonatal respi... OMIM:610921
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Diastasis recti, Large placenta, Umbilical hernia ORPHA:254534
Feingold Syndrome 2
3-4 toe syndactyly, Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Postnatal growth ... OMIM:614326
Muscular Dystrophy, Duchenne Type
Hypoventilation, Muscular dystrophy, Flexion contracture, Respiratory insufficiency, Respiratory ... OMIM:310200
Oculocutaneous Albinism Type 1B
Basal cell carcinoma, Hypopigmentation of hair, Albinism, Squamous cell carcinoma of the skin, Me... ORPHA:79434
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Respiratory insufficiency, Proximal muscle weakness in lower limbs, Skeletal... OMIM:310440
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Avian Influenza
Myelitis, Elevated hepatic transaminase, Respiratory distress, Dyspnea, Pleural effusion, Cough, ... ORPHA:454836
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Gait ataxia, Ataxia, Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria ORPHA:208513
Transcobalamin Deficiency
Abnormality of chromosome stability, Methylmalonic aciduria, Acute kidney injury ORPHA:859
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Peroneal muscle atrophy, Amyoplasia, Progressive distal muscular atrophy, Scapu... OMIM:181405
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Pericardial And Diaphragmatic Defect
Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia ORPHA:2847
Neurofibromatosis, Familial Spinal
Paraparesis, Lower limb muscle weakness OMIM:162210
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Xeroderma Pigmentosum, Complementation Group C
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin OMIM:278720
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Facial diplegia, Hypoventilation, Flexion contracture, Quadriceps... ORPHA:70
Xanthinuria, Type I
Pyelonephritis, Xanthinuria, Hydronephrosis, Xanthine nephrolithiasis OMIM:278300
Lymphedema-Distichiasis Syndrome
Fibrosarcoma, Recurrent urinary tract infections, Glomerulopathy, Conjunctivitis, Tubulointerstit... ORPHA:33001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Donnai-Barrow Syndrome
Diaphragmatic eventration, Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia OMIM:222448
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Dental malocclusion, Short mandibular rami, Tongue atrophy OMIM:141300
Mismatch Repair Cancer Syndrome 1
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... OMIM:276300
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Osteosarcoma, Histiocytoma, Premature graying of hair OMIM:112250
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Dyspnea, Respiratory distress, Bronchiectasis, Interstitial pneumonitis... OMIM:610913
Circumvallate Placenta Syndrome
Respiratory insufficiency OMIM:215550
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Abnormal renal morphology, Horseshoe kidney,... OMIM:609053
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Respiratory failure, Neonatal respiratory distress ORPHA:168486
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia OMIM:241310
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Respiratory insufficiency, Decreased liver function, Respiratory f... OMIM:618329
Multiple Acyl-Coa Dehydrogenase Deficiency
Restrictive ventilatory defect, Scapular winging, Increased intramyocellular lipid droplets, Elev... ORPHA:26791
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Respiratory failure, Skeletal muscle atrophy OMIM:607598
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Flexion contracture, Type 1 muscle fiber predominance, Nemali... ORPHA:171430
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Leigh Syndrome
Hepatocellular necrosis, Respiratory insufficiency, Respiratory failure, Abnormal pattern of resp... OMIM:256000
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal hair quantity, Abnormal testis morphology, Neoplasm of the thyroid gland, Neopla... ORPHA:457059
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Macroglossia, Diastasis recti, Flexion contracture of finger, Open mouth, Camptod... ORPHA:254528
Pauci-Immune Glomerulonephritis
Arteritis, Acute kidney injury, Scleritis, Nephrotic range proteinuria, Glomerular sclerosis, Dec... ORPHA:93126
Fanconi Anemia, Complementation Group C
Chromosomal breakage induced by crosslinking agents, Horseshoe kidney, Duplicated collecting syst... OMIM:227645
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Viral hepatitis, Thyroiditis, Hepatocellula... ORPHA:2137
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia, Parkinso... OMIM:300894
Igg4-Related Kidney Disease
Hematuria, Acute kidney injury, Pericarditis, Interstitial pneumonitis, Urinary bladder inflammat... ORPHA:449395
Rothmund-Thomson Syndrome Type 1
Basal cell carcinoma, Myelodysplasia, Cryptorchidism, Premature ovarian insufficiency, Sparse hai... ORPHA:221008
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Unilateral renal ... ORPHA:93110
Rothmund-Thomson Syndrome, Type 2
Basal cell carcinoma, Cryptorchidism, Sparse eyebrow, Sparse hair, Premature graying of hair, Abs... OMIM:268400
Autoinflammation, Immune Dysregulation, And Eosinophilia
Colonic eosinophilia, Atopic dermatitis, Membranous nephropathy, Nephrotic syndrome OMIM:618999
Severe Generalized Junctional Epidermolysis Bullosa
Dysuria, Ureteral obstruction, Gastrointestinal inflammation, Aplasia/Hypoplasia of the bladder, ... ORPHA:79404
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433