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,  Par4,  c-Met

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
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Renal Cell Carcinoma, Papillary, 1
Papillary renal cell carcinoma OMIM:605074
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Arthrogryposis, Distal, Type 11
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... OMIM:620019
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
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency, Neonatal death, ... OMIM:611369
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Scapular winging, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Respirator... OMIM:617232
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Fibromatosis, Gingival, 1
Gingival fibromatosis OMIM:135300
Cheilitis Glandularis
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma ORPHA:1221
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Lethal Congenital Contracture Syndrome 4
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Respiratory insufficie... OMIM:614915
Fibromatosis, Gingival, With Progressive Deafness
Gingival fibromatosis OMIM:135550
Hereditary Gingival Fibromatosis
Gingival fibromatosis ORPHA:2024
Fibromatosis, Gingival, 5
Gingival fibromatosis OMIM:617626
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... ORPHA:266
Colorectal Cancer, Susceptibility To, 12
Carcinoma OMIM:615083
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Desmoid Disease, Hereditary
Desmoid tumors, Breast carcinoma OMIM:135290
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu... OMIM:613736
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Cerebellar vermis atrophy, Gait ataxia OMIM:616410
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp... OMIM:300717
Schöpf-Schulz-Passarge Syndrome
Alopecia, Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma, Sparse hair, Aplasia/H... ORPHA:50944
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy OMIM:613869
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Spinocerebellar Ataxia Type 30
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia ORPHA:211017
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Muscular Dystrophy, Congenital, 1B
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... OMIM:604801
Autosomal Recessive Spastic Paraplegia Type 43
Ankle flexion contracture, Babinski sign, Knee flexion contracture, Poor fine motor coordination,... ORPHA:320370
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
N Syndrome
Abnormality of chromosome stability, Leukemia, Neoplasm, Hypospadias OMIM:310465
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,... OMIM:616081
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Xeroderma Pigmentosum Variant
Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Schopf-Schulz-Passarge Syndrome
Poroma, Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Sparse hair, Sparse body h... OMIM:224750
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Nemaline Myopathy 8
Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Myofibrillar myopathy, ... OMIM:615348
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia OMIM:615268
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Acquired Ichthyosis
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma ORPHA:454
Congenital Myopathy 14
Death in infancy, Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... OMIM:618414
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Dysdiadochokinesis OMIM:605388
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617133
Milroy Disease
Angiosarcoma, Hydrocele testis, Neoplasm of the skin ORPHA:79452
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Abnormality of the ... ORPHA:79405
Macroglossia
Macroglossia OMIM:153630
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Upper limb muscle weakness, Paraparesis, Distal amyotrophy, Foot dorsiflexor weakness OMIM:302802
Xeroderma Pigmentosum, Complementation Group F
Seborrheic keratosis, Defective DNA repair after ultraviolet radiation damage, Keratoacanthoma, S... OMIM:278760
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture... OMIM:603689
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Hypertonia OMIM:614023
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Spastic Paraparesis And Deafness
Tremor, Short stature, Spastic paraparesis OMIM:312910
Fetal Encasement Syndrome
Omphalocele, Congenital diaphragmatic hernia OMIM:613630
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Squamous cell carcinoma, Squam... ORPHA:217390
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Ataxia OMIM:619333
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Gait ataxia ORPHA:217012
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Increased variability ... OMIM:619334
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Distal amyotro... OMIM:607641
Late-Onset Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Abnormality of the ... ORPHA:79406
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Sprengel Deformity
Torticollis, Shoulder muscle hypoplasia, Abnormality of the shoulder girdle musculature ORPHA:3181
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, B-cell lymphoma, Myelodysplasia, Hematological neoplasm, T-cell lymphoma,... ORPHA:158057
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma ORPHA:357154
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma ORPHA:626
Self-Improving Dystrophic Epidermolysis Bullosa
Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Abnormality of the ... ORPHA:79411
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... OMIM:617006
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... OMIM:605724
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Cowden Syndrome 7
Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... OMIM:616858
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu... OMIM:613779
Epidermodysplasia Verruciformis
Recurrent skin infections, Seborrheic dermatitis, Pustule, Squamous cell carcinoma, Verrucae ORPHA:302
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma ORPHA:296
Spastic Paraparesis-Deafness Syndrome
Hemiplegia/hemiparesis, Short stature, Ataxia, Spastic paraparesis ORPHA:2815
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in infancy, Respiratory failure requiring assisted ventilation, Nemaline bodies, Increased ... OMIM:620265
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Leukemia, Myelodysplasia OMIM:614082
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Liposarcoma
Sarcoma ORPHA:69078
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Parkinsonism, Paraparesis, Tetraparesis, Extrapyramidal dyskinesia, Apraxia OMIM:105550
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n... ORPHA:90117
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Mast Cell Sarcoma
Sarcoma ORPHA:66661
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Radial-Renal Syndrome
Chromosome breakage, Unilateral renal agenesis, Ectopic kidney OMIM:179280
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Oropharyngeal squamous cell carcinoma, Alopecia, Yellow nails, Breast carcinoma, Nail dystrophy, ... OMIM:614564
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Distal lower limb amyotrophy, Incoordination, Hand muscle weakness, Tremor, Paraparesis, Achilles... OMIM:302800
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Paraparesis, Ataxia, Tremor ORPHA:99014
C1Q Deficiency 1
Membranoproliferative glomerulonephritis OMIM:613652
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of fi... OMIM:614399
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... ORPHA:79140
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents OMIM:616435
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Abnormality of the liver, Respiratory failure ORPHA:132
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Paucity of anterior horn motor n... OMIM:611890
Frontotemporal Dementia With Motor Neuron Disease
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... ORPHA:275872
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski si... OMIM:615157
Fanconi Anemia, Complementation Group P
Pelvic kidney, Horseshoe kidney, Chromosomal breakage induced by crosslinking agents, Squamous ce... OMIM:613951
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:613954
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Abnormal hair morphology... ORPHA:2591
Necrobiosis Lipoidica
Squamous cell carcinoma ORPHA:542592
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Truncal ataxia OMIM:604432
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... ORPHA:2926
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Moderately short stature, Babinski sig... ORPHA:506353
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Nail dystrophy, Squamous cell carcinoma OMIM:615225
Fanconi Anemia, Complementation Group O
Hydronephrosis, Chromosome breakage, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakn... ORPHA:98913
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma OMIM:278750
Systemic Lupus Erythematosus 16
Lupus nephritis OMIM:614420
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Placental Insufficiency
Intrauterine growth retardation, Abnormal umbilical cord blood vessel morphology, Abnormal placen... ORPHA:439167
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign OMIM:617770
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Fanconi Anemia, Complementation Group N
Nephroblastoma, Medulloblastoma, Neuroblastoma, Chromosomal breakage induced by crosslinking agents OMIM:610832
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Multinodular goiter, Squamous cell carcinoma, Nail dystrophy, Alopecia of scalp OMIM:618373
Recessive Dystrophic Epidermolysis Bullosa Inversa
Urethral stricture, Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma,... ORPHA:79409
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Resp... OMIM:611067
Lethal Congenital Contracture Syndrome 8
Death in infancy, Flexion contracture, Vocal cord paralysis, Facial diplegia, Hammertoe, Distal a... OMIM:616287
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Respiratory failure, Limb muscle weakness OMIM:600561
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Elbow contracture, Facial palsy, Achilles tendon contracture, Proximal a... OMIM:606612
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis OMIM:314000
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Gait ataxia ORPHA:98769
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Proxim... ORPHA:101077
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Flexion... ORPHA:2590
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Huriez Syndrome
Squamous cell carcinoma of the skin, Nail dystrophy OMIM:181600
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Upper limb hypert... OMIM:613672
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Diaphragmatic eventration, Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve cond... OMIM:604320
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia ORPHA:101005
Werner Syndrome
Renal neoplasm, Sparse scalp hair, Acral lentiginous melanoma, Abnormal hair whorl, Breast carcin... ORPHA:902
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Meige Disease
Angiosarcoma ORPHA:90186
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Intestinal malrotation, Abnormal ... ORPHA:3032
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypoplasia of the musculature OMIM:253310
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Congenital Muscular Dystrophy With Intellectual Disability
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... ORPHA:370968
Mast Syndrome
Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokinesis, Hypertonia, Spa... OMIM:248900
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Desmoid Tumor
Abnormality of the upper urinary tract, Desmoid tumors, Neoplasm of the skin, Fibroma, Hydronephr... ORPHA:873
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... ORPHA:171433
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Recurrent pneumonia, Bronchiectasis, Atopic d... OMIM:243700
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Flexion contract... OMIM:616867
Exostoses, Multiple, Type Ii
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133700
Nemaline Myopathy 10
Death in infancy, Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency due to muscle ... OMIM:616165
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ... ORPHA:83469
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:608709
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Immunodeficiency 54
Chromosome breakage, Lymphoproliferative disorder OMIM:609981
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titu... OMIM:607483
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Weakness of facial musculature, Respiratory failure OMIM:618637
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Neonatal respiratory distress, Death in infancy, Elevated circulating as... OMIM:245400
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Upp... ORPHA:254343
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Spinocerebellar Ataxia 4
Cerebellar atrophy, Progressive cerebellar ataxia, Limb dysmetria, Distal sensory impairment OMIM:600223
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Congenital contracture OMIM:225753
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Achilles ... OMIM:620249
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Ragged-red muscle fibers OMIM:616794
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Abnormality of the ... ORPHA:79410
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Fibrosarcoma, Abnormality of the ovary, Hirsutism ORPHA:314478
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis ORPHA:231445
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... ORPHA:75840
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Schisis Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:63862
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Strid... OMIM:606071
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia ORPHA:1166
Spastic Paraplegia 48, Autosomal Recessive
Lower limb spasticity, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Spastic paraparesis, ... OMIM:613647
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Hydrolethalus Syndrome 1
Median cleft lip, Polyhydramnios, Anencephaly, Cleft palate, Stillbirth, Intrauterine growth reta... OMIM:236680
Recurrent Respiratory Papillomatosis
Squamous cell carcinoma ORPHA:60032
Autosomal Dominant Spastic Paraplegia Type 73
Distal lower limb amyotrophy, Lower limb spasticity, Progressive spastic paraparesis, Babinski si... ORPHA:444099
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ovarian carcinoma, Breast carcinoma, Ovarian neoplasm OMIM:617883
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Sarcoma ORPHA:69077
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Thymoma
Myositis, Glomerulonephritis, Neoplasm of head and neck, Ulcerative colitis, Neoplasm of the lung... ORPHA:99867
Cebalid Syndrome
Polymicrogyria, Congenital diaphragmatic hernia OMIM:618774
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm OMIM:618901
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia OMIM:300887
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Myoclonus... OMIM:617854
Congenital Macroglossia
Neurofibroma ORPHA:2430
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Optic atrophy, Congenital laryngeal stridor, Degeneration of anterior ho... ORPHA:2254
Spastic Paraplegia 20, Autosomal Recessive
Lower limb spasticity, Ulnar deviation of the hand, Short stature, Flexion contracture, Babinski ... OMIM:275900
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Thyroiditis, Glomerulonephritis, Hodgkin lymphoma OMIM:619375
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Decreased fumarate hydratase activity, U... OMIM:150800
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Respiratory failure ORPHA:890
Hyperekplexia 4
Respiratory failure, Flexion contracture, Distal arthrogryposis, Camptodactyly OMIM:618011
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal... OMIM:612999
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:2143
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis ORPHA:140989
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Optic atrophy, Respiratory failure, Aspiration pneumonia, Intraute... OMIM:619057
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Scapular winging, Tongue atrophy, Facial palsy, Calf muscle hypertrophy,... OMIM:158900
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... OMIM:610755
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency, Proximal amyotrophy, My... OMIM:605355
Gardner Syndrome
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Decr... OMIM:606070
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Dysmetri... OMIM:617633
Epilepsy, Progressive Myoclonic, 9
Simplified gyral pattern, Microglossia, Generalized amyotrophy OMIM:616540
Xeroderma Pigmentosum, Complementation Group E
Keratitis, Defective DNA repair after ultraviolet radiation damage, Melanoma, Basal cell carcinom... OMIM:278740
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Pustule, ... ORPHA:678
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Spinocerebellar Ataxia Type 40
Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis, Intention tremor ORPHA:423275
8P23.1 Duplication Syndrome
Hydronephrosis, Exostoses ORPHA:251076
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Lymphoproliferative disorder, Stage 5 chronic kidney disease,... OMIM:615559
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve compression, A... ORPHA:52430
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotrophy, Knee flexion cont... ORPHA:496689
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Dysmetria, Distal amyotrophy, Dysdiadochokinesis, Myoclonus, Increased in... OMIM:614487
Fetal Akinesia Deformation Sequence 1
Decreased muscle mass, Elbow contracture, Polyhydramnios, Fetal akinesia sequence, High, narrow p... OMIM:208150
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Spastic paraparesis ORPHA:67047
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:567548
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma ORPHA:220460
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia ORPHA:95706
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... OMIM:180295
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Sprengel Deformity
Shoulder muscle hypoplasia, Neck muscle hypoplasia OMIM:184400
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Death in infancy, Myopathy, Respiratory failure, Stillbirth, Decreased liver functi... OMIM:614922
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Abnormality of neuronal migration, Congenital diaphragmatic hernia ORPHA:2063
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Renal agenesis, Ectopic kidney, Abnormal renal morphology, Horsesho... OMIM:227650
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the musculature, Cleft palate, Hydranencephaly, Intrauterine growth retardation, Jo... OMIM:225790
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... OMIM:265120
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Crescentic glomerulonephritis, Mesangial hypercellularity OMIM:616414
Spinocerebellar Ataxia 26
Cerebellar atrophy, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:609306
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Deficient excisio... OMIM:600901
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Truncal ataxia, Cerebellar vermis atrophy OMIM:614229
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Myasthenic Syndrome, Congenital, 10
Weakness of facial musculature, Distal amyotrophy, Tongue atrophy, Proximal amyotrophy OMIM:254300
Xeroderma Pigmentosum, Complementation Group C
Keratitis, Defective DNA repair after ultraviolet radiation damage, Basal cell carcinoma, Squamou... OMIM:278720
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morph... ORPHA:1145
Congenital Myopathy 21 With Early Respiratory Failure
EMG: myopathic abnormalities, Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Lymphoma, Bronchiectasis, Squamous cell... OMIM:210900
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Avian Influenza
Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Productive cough, No... ORPHA:454836
Yellow Nail Syndrome
Renal neoplasm, Sinusitis, Bronchiectasis, Neoplasm of the lung, Neoplasm, Rhinitis, Nephropathy,... ORPHA:662
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Auriculocondylar Syndrome 2A
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:614669
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Skeletal muscle atrophy, Abnormality of skeletal muscle f... OMIM:620278
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm OMIM:618238
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Respiratory failure, Respiratory insufficiency, Knee flexion contracture OMIM:313420
Cooper-Jabs Syndrome
Umbilical hernia, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1488
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic hair, Squamous cell carcinoma, Nail dy... OMIM:148210
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Death in infancy, Respiratory failure, Intrauterine growth retardation, Polymicrogyria OMIM:610678
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Nail dystrophy, Squamous cell carcinoma OMIM:226600
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Hypoplasia of the musculature ORPHA:85323
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... ORPHA:43
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations OMIM:613435
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Intrinsic hand muscle atrophy, Upper limb amyotrophy, Amyotrophy of... ORPHA:90103
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Micromelia OMIM:273680
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Intrauterine growth retardation, Severe intrauterine growth retardatio... ORPHA:73272
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:284180
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Squamous cell carcinoma, Fine hair, Basal cell carcinoma, Nail dystr... OMIM:601675
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Truncal ataxia, Low... OMIM:300100
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Coffin-Siris Syndrome 3
Macroglossia, Central diaphragmatic hernia, Umbilical hernia, Inguinal hernia OMIM:614608
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Bilateral vestibular schwannoma, Paraspinal neurofibroma, Palmar neurofibroma, Lisch nodules, Men... OMIM:162260
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Chromomycosis
Keratitis, Keratoconjunctivitis sicca, Multiple cutaneous malignancies, Squamous cell carcinoma ORPHA:182
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Cleft palate, Small placenta, Oligohydramnios ORPHA:397590
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... OMIM:618348
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Spastic Paraplegia 75, Autosomal Recessive
Distal lower limb amyotrophy, Babinski sign, Abnormal pyramidal sign, Dysmetria, Spastic dysarthr... OMIM:616680
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Respiratory insufficiency, Respiratory failure, Intrauterine growth retardation, P... OMIM:615330
Fragile X Syndrome
Chronic otitis media, Folate-dependent fragile site at Xq28, Sinusitis, Otitis media ORPHA:908
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Ragged-red muscle fibers, Myopathy, Re... ORPHA:352447
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Lower limb muscle weakness, Dysmetria, Spastic dysarthria, Distal amyotrophy, Dysdiadocho... ORPHA:313772
Transcobalamin Deficiency
Abnormality of chromosome stability, Acute kidney injury, Methylmalonic aciduria ORPHA:859
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Oncogenic Osteomalacia
Hyperphosphaturia, Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carc... ORPHA:352540
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... OMIM:602099
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia OMIM:300978
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Elevated circulating aspartate aminotransferase concentration, Elevated circula... OMIM:619386
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia ORPHA:63260
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Flexion contracture, Congenital diaphragmatic hernia OMIM:263210
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Muscular Dystrophy, Duchenne Type
Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,... OMIM:310200
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate ORPHA:141152
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis OMIM:617691
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Triosephosphate Isomerase Deficiency
Respiratory distress, Optic disc pallor, Skeletal muscle atrophy, Death in infancy, Respiratory i... OMIM:615512
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Paraparesis, Ataxia, Tetraparesis ORPHA:27
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Pericarditis, B-c... ORPHA:91139
Aicardi Syndrome
Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemangioma, Sparse lateral ... OMIM:304050
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... ORPHA:2302
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Hepatomegaly, Limb joint contracture, Shoulder flexion contrac... OMIM:620369
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Diastasis recti, Polyhydramnios ORPHA:254534
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Hartnup Disorder
Glossitis OMIM:234500
Autoinflammatory-Pancytopenia Syndrome
Intestinal inflammation, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains OMIM:619858
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Spastic paraparesis OMIM:615643
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal r... ORPHA:803
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Absence of renal corticomedullary differ... OMIM:613254
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Myelodysplasia, Cryptorchidism, Premature graying of hair, Squamous cell carcinoma of the skin, N... OMIM:620365
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Myopathy, Respiratory failure, Cirrhosis, Hepatic steatosis ORPHA:363400
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic h... OMIM:620285
Fanconi Anemia, Complementation Group U
Chromosome breakage, Ectopic kidney OMIM:617247
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Death in infancy, Camptodactyly of finger, Flexion contracture, Respiratory failure... ORPHA:1194
X-Linked Charcot-Marie-Tooth Disease Type 2
Distal lower limb amyotrophy, Clasp-knife sign, Tibialis anterior muscle atrophy, Peroneal muscle... ORPHA:101076
Hsd10 Disease
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Myoclonus, Spastic parap... ORPHA:391417
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange, Malar rash OMIM:618097
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Deficient excisio... OMIM:227645
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Pericardial And Diaphragmatic Defect
Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia ORPHA:2847
Jansen-De Vries Syndrome
Central diaphragmatic hernia OMIM:617450
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Neurofibromatosis, Familial Spinal
Symmetric spinal nerve root neurofibromas, Neurofibroma, Plexiform neurofibroma, Lisch nodules, S... OMIM:162210
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Upper limb muscle weakness, Tongue atrophy, Lower limb muscle weakness, Foot dorsiflexor weakness OMIM:616155
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Camptodactyly, Neonatal death, Pulmonary ... OMIM:619751
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Premature graying of hair, Fibrosarcoma, Histiocytoma, Osteosarcoma OMIM:112250
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Severe short stature, Ataxia, Proportionate short stature, Spastic tetra... ORPHA:3208
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Death in infancy, Tachypnea, Optic atrophy, Respiratory insuf... OMIM:614299
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Albinism, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of th... ORPHA:79434
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Pierre... OMIM:254940
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... ORPHA:33001
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Limb joint contracture, Flexion contracture, Respirato... OMIM:618186
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... OMIM:614376
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency du... OMIM:618291
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Multiple joint contractu... ORPHA:70
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Cutis Laxa, Autosomal Recessive, Type Ia
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia OMIM:219100
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Thin upper lip vermilion, Foot joint contracture, Facial palsy, Hyperechogenic panc... ORPHA:456312
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Exaggerated cupid's bow, Diastasis recti, Polyhydramnios, Large placenta, Flexion contracture, Ma... ORPHA:254528
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... ORPHA:276399
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Optic atrop... OMIM:220110
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Chromosomal... OMIM:609053
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita OMIM:607598
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... ORPHA:171430
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Skeletal muscle atrophy, Scapula... ORPHA:26791
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Spinal muscular atrophy, Spastic tetraparesis, Progressive spastic paraparesis, G... ORPHA:496756
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
15Q24 Microdeletion Syndrome
Hernia, Congenital diaphragmatic hernia ORPHA:94065
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Leigh Syndrome
Optic atrophy, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Abnormal ... OMIM:256000
Rothmund-Thomson Syndrome Type 1
Alopecia totalis, Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Sparse or absent eyela... ORPHA:221008
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ... OMIM:268400
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Atopic dermatitis, Colonic eosinophilia, Membranous nephropathy OMIM:618999
Thoracoabdominal Syndrome
Omphalocele, Congenital diaphragmatic hernia, Ventral hernia OMIM:313850
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pne... OMIM:620296
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Micropenis, Defic... OMIM:227646
Oculocerebrocutaneous Syndrome
Polymicrogyria, Congenital diaphragmatic hernia ORPHA:1647
Ataxia-Telangiectasia-Like Disorder 2
Joint contracture, Congenital diaphragmatic hernia OMIM:615919
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Seckel Syndrome 9
Simplified gyral pattern, Congenital diaphragmatic hernia OMIM:616777
Fanconi Anemia, Complementation Group R
Pelvic kidney, Chromosomal breakage induced by crosslinking agents OMIM:617244
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Desmoid tumors, Adenocarcinoma of the colon ORPHA:247798
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Abnormality of the dentition, Hypersplenism, Splenomegaly, Jaundic... ORPHA:231226
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Optic atrophy, Abnormality of masticatory muscle, Respiratory failure, A... ORPHA:98755
Rothmund-Thomson Syndrome Type 2
Alopecia totalis, Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Sparse or ab... ORPHA:221016
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Paraparesis, Femoral bowing, Tetraparesis, Osteosclerosis ... OMIM:602080
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Fibr... ORPHA:733
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616437
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Rothmund-Thomson Syndrome
Sparse eyelashes, Alopecia totalis, Myelodysplasia, Sparse eyebrow, Squamous cell carcinoma, Mela... ORPHA:2909
Immunodeficiency 91 And Hyperinflammation
Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Hemolytic... OMIM:619644
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:2311
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Hypospadias, Myelodysplasia, Phimo... OMIM:305000
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia ORPHA:1915
Donnai-Barrow Syndrome
Omphalocele, Diaphragmatic eventration, Umbilical hernia, Congenital diaphragmatic hernia OMIM:222448
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia ORPHA:1120
Hereditary Acrokeratotic Poikiloderma
Eczema, Abnormal preputium morphology, Abnormality of the urethra, Pustule, Squamous cell carcino... O