Gene: Col5a2 MGI:88458

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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

collagen, type V, alpha 2

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Col5a2 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 Col5a2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Col5a2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Lichen Amyloidosis
Pruritus ORPHA:49804
Retinitis Pigmentosa 42
Pallor OMIM:612943
Retinitis Pigmentosa 81
Pallor OMIM:617871
Retinitis Pigmentosa 60
Pallor OMIM:613983
Dermatitis, Atopic
Keratoconus, Pruritus, Allergic rhinitis, Atopic dermatitis, Facial erythema, Cataract, Conjuncti... OMIM:603165
Brittle Cornea Syndrome 1
Scoliosis, Keratoconus, Molluscoid pseudotumors, Decreased corneal thickness, Red hair, Palmoplan... OMIM:229200
Juvenile Hyaline Fibromatosis
Abnormal hair morphology, Subcutaneous nodule, Death in infancy, Aplasia/Hypoplasia of the skin, ... ORPHA:2028
Classic Mycosis Fungoides
Skin rash, Pruritus, Skin plaque, Erythema, Alopecia, Hypopigmented skin patches, Eczema, Skin ul... ORPHA:2584
Chilblain Lupus
Skin rash, Erythematous papule, Pruritis on hand, Discoid lupus rash, Malar rash, Asthma, Skin ul... ORPHA:90280
Non-Epidermolytic Palmoplantar Keratoderma
Papule, Pruritus, Skin ulcer, Erythema ORPHA:2337
Dermatoosteolysis, Kirghizian Type
Scoliosis, Keratitis, Skin ulcer, Nail dystrophy OMIM:221810
Optic Atrophy 9
Pallor OMIM:616289
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Indurated nodule, Annular cutaneous lesion, Atrophic scars,... ORPHA:542592
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Skin rash, Pruritus, Subcutaneous nodule, Recurrent cutaneous abscess formation, Skin ulcer ORPHA:231
Flynn-Aird Syndrome
Scoliosis, Kyphosis, Dermal atrophy, Cataract, Cachexia, Alopecia, Skin ulcer ORPHA:2047
Proliferating Trichilemmal Cyst
Sparse scalp hair, Epidermoid cyst, Skin ulcer ORPHA:492
Scoliosis, Thin skin, Aplasia/Hypoplasia of the skin, Excessive wrinkled skin, Fine hair, Skin ulcer ORPHA:2500
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Retinitis Pigmentosa 70
Pallor OMIM:615922
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Scoliosis, Restrictive ventilatory defect, Respiratory distress, Respiratory insufficiency, Respi... OMIM:614399
Hyperkeratosis Lenticularis Perstans
Papule, Pruritus, Skin ulcer, Aplasia/Hypoplasia of the skin ORPHA:409
Lichen Planopilaris
Pruritus, Dermal atrophy, Pterygium, Alopecia, Hypopigmented skin patches, Papule, Skin ulcer ORPHA:525
Breath-Holding Spells
Pallor OMIM:607578
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Hyperlordosis, Respiratory insufficiency, Cataract, Spinal rigidity OMIM:617404
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Dermatofibrosarcoma Protuberans
Subcutaneous nodule, Skin ulcer, Erythema ORPHA:31112
Dermatoosteolysis, Kirghizian Type
Scoliosis, Keratitis, Aplasia/Hypoplasia of the skin, Dystrophic toenail, Dystrophic fingernails,... ORPHA:1657
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial instability, Spondylolysis, Os odontoideum, Lumbar hyperlordosis, Respiratory failur... OMIM:600561
Amyloidosis, Primary Localized Cutaneous, 2
Pruritus OMIM:613955
Myosclerosis, Autosomal Recessive
Decreased pulmonary function, Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity, Red... OMIM:255600
Autosomal Dominant Hyper-Ige Syndrome
Scoliosis, Skin rash, Pruritus, Abnormal hair morphology, Cough, Atelectasis, Eczema, Dystrophic ... ORPHA:2314
Reticular Dysgenesis
Skin rash, Failure to thrive, Skin ulcer, Weight loss ORPHA:33355
Retinitis Pigmentosa 73
Pallor OMIM:616544
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
X-Linked Agammaglobulinemia
Recurrent pneumonia, Skin rash, Weight loss, Hypopigmented skin patches, Sinusitis, Conjunctiviti... ORPHA:47
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinusitis, Pyoderma gangrenosum, Alopeci... OMIM:616576
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin ORPHA:1114
Prolidase Deficiency
Crusting erythematous dermatitis, Facial hirsutism, Chronic lung disease, Petechiae, Asthma, Fail... OMIM:170100
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Respiratory insufficiency due to muscle weakness, Spinal rigi... OMIM:300718
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Isolated Agammaglobulinemia
Skin rash, Pneumonia, Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin u... ORPHA:229717
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Skin ulcer, Conjunctival hamartoma, Weight loss ORPHA:312
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Recurrent bacterial skin infections, Recurrent sinusitis, Pneumonia, Asthma, S... ORPHA:217390
Bronchopulmonary Dysplasia
Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system physiology, Dyspnea, Cou... ORPHA:70589
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Thin skin, Pulmonary embolism, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:743
Rigid Spine Syndrome
Scoliosis, Abnormality on pulmonary function testing, Hyperlordosis, Pneumonia, Respiratory insuf... ORPHA:97244
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Hyperlordosis, Obstructive sleep apnea, Exertional dyspnea ORPHA:352470
Chilblain Lupus 1
Skin ulcer OMIM:610448
Mucolipidosis Type Iii
Hyperlordosis, Corneal opacity, Acne, Abnormal form of the vertebral bodies ORPHA:577
Brittle Cornea Syndrome 2
Keratoconus, Decreased corneal thickness, Keratoglobus, Megalocornea, Flat cornea, Sclerocornea OMIM:614170
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
Familial Multiple Nevi Flammei
Nevus flammeus, Scoliosis, Pulmonary embolism, Papule, Hypermelanotic macule, Skin ulcer ORPHA:624
Optic Atrophy 1
Pallor OMIM:165500
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Emphysema, Ectopia lentis, Chronic sinusitis, Skin ulcer OMIM:604571
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Cataract, Keratoconjunctivitis sicca, Microcornea, Sclerocornea, Fine hair, Skin ulc... ORPHA:1806
Retinitis Pigmentosa 27
Pallor OMIM:613750
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Laryngoonychocutaneous Syndrome
Skin ulcer OMIM:245660
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Takayasu Arteritis
Subcutaneous nodule, Weight loss, Abnormal pattern of respiration, Pulmonary arterial hypertensio... ORPHA:3287
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Cataract, Hyperlordosis ORPHA:2310
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Skin ulcer ORPHA:139578
Skin plaque, Weight loss, Rhinitis, Papule, Pallor, Skin ulcer ORPHA:507
Congenital Muscular Dystrophy Due To Lmna Mutation
Hyperlordosis, Death in infancy, Respiratory insufficiency, Spinal rigidity, Cachexia ORPHA:157973
Prolidase Deficiency
Low anterior hairline, Pruritus, Thin skin, Hirsutism, Erythema, Crusting erythematous dermatitis... ORPHA:742
Acrodermatitis Enteropathica
Pustule, Abnormal eyebrow morphology, Corneal erosion, Weight loss, Erythema, Conjunctivitis, Alo... ORPHA:37
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Kyphoscoliosis OMIM:619099
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis, Reduced vital capacity OMIM:617760
Leukodystrophy, Hypomyelinating, 17
Hirsutism, Respiratory distress, Kyphoscoliosis OMIM:618006
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Familial Anetoderma
Lumbar hyperlordosis, Papule ORPHA:228277
Lethal Osteosclerotic Bone Dysplasia
Short neck, Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Scoliosis, Respiratory distress, Ventilator dependence with inability to wean, Failure to thrive ... ORPHA:254875
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Ollier Disease
Subcutaneous nodule, Skin ulcer, Platyspondyly ORPHA:296
Atelosteogenesis, Type Ii
Scoliosis, Platyspondyly, Stillbirth, Coronal cleft vertebrae, Death in infancy, Respiratory insu... OMIM:256050
Microtriplication 11Q24.1
Scoliosis, Keratoconus, Long eyelashes, Synophrys, Thick eyebrow, Short neck, Obesity ORPHA:289522
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis, Keloids, Obesity, Cataract, Dry skin ORPHA:3085
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Hyperlordosis, Reduced vital capacity OMIM:607088
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Hyperlordosis, Coronal cleft vertebrae, Abnormal vertebral morphology, Irregular verte... OMIM:618363
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Thoracic kyphosis, Irregular vertebral endplates, Lumbar hyperlordosis,... OMIM:609223
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Skin ulcer, Hypopigmented skin patches ORPHA:220402
Congenital Disorder Of Glycosylation, Type Iy
Scoliosis, Respiratory distress, Failure to thrive OMIM:300934
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Retinitis Pigmentosa
Keratoconus, Cataract, Atypical scarring of skin, Obesity ORPHA:791
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity OMIM:615993
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Perching Syndrome
Respiratory distress OMIM:617055
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Keratoconus, Short neck, Abnormal vertebral segmentation and f... OMIM:244600
Mental Retardation, Autosomal Dominant 23
Scoliosis, Low anterior hairline, Hyperlordosis, Kyphosis, Sacral dimple, Synophrys, Astigmatism OMIM:615761
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weakness OMIM:611067
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive OMIM:615595
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Arthrogryposis, Distal, Type 5
Scoliosis, Keratoconus, Restrictive ventilatory defect, Keratoglobus, Astigmatism OMIM:108145
Buerger Disease
Skin ulcer ORPHA:36258
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Nonproductive cough, Respiratory insufficiency, Tracheom... ORPHA:60032
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Nemaline Myopathy 3
Slender build, Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Respir... OMIM:161800
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Respiratory distress, Decreased body weight OMIM:300580
Reynolds Syndrome
Pruritus, Skin rash, Respiratory insufficiency, Keratoconjunctivitis sicca, Skin ulcer ORPHA:779
Myasthenic Syndrome, Congenital, 16
Hyperlordosis, Apnea OMIM:614198
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Sparse hair, Thin skin, Skin dimple, Failure to thrive, Aplasia/Hypoplasia ... ORPHA:261304
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
Spinal Muscular Atrophy, Infantile, James Type
Scoliosis, Lumbar hyperlordosis, Respiratory insufficiency OMIM:619042
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Lumbar hyperlordosis, Obesity OMIM:616756
Polyarteritis Nodosa
Subcutaneous nodule, Skin ulcer, Weight loss, Erythema ORPHA:767
Hidrotic Ectodermal Dysplasia
Sparse hair, Sparse axillary hair, Abnormality of nail color, Sparse pubic hair, Sparse scalp hai... ORPHA:189
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Pleural Mesothelioma
Dyspnea, Respiratory distress, Abnormal respiratory system physiology, Pleural effusion, Cough, W... ORPHA:50251
Myasthenic Syndrome, Congenital, 5
Scoliosis, Respiratory insufficiency due to muscle weakness, Hyperlordosis, Respiratory insuffici... OMIM:603034
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Infantile Myofibromatosis
Subcutaneous nodule, Skin ulcer, Abnormal hair morphology, Abnormal sacrum morphology ORPHA:2591
Nemaline Myopathy 2
Slender build, Apnea, Hyperlordosis, Scoliosis, Respiratory insufficiency due to muscle weakness,... OMIM:256030
Juvenile Dermatomyositis
Skin rash, Restrictive ventilatory defect, Pruritus, Dyspnea, Cough, Weight loss, Erythema, Alope... ORPHA:93672
Incontinentia Pigmenti
Scoliosis, Skin rash, Abnormal hair morphology, Corneal opacity, Pulmonary arterial hypertension,... ORPHA:464
Brittle Cornea Syndrome
Scoliosis, Abnormality of hair pigmentation, Decreased corneal thickness, Corneal erosion, Kerato... ORPHA:90354
Free Sialic Acid Storage Disease
Iris hypopigmentation, Skin ulcer, Failure to thrive in infancy ORPHA:834
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Holocarboxylase Synthetase Deficiency
Respiratory distress, Perioral eczema, Weight loss, Alopecia, Tachypnea, Keratoconjunctivitis, Ec... ORPHA:79242
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Pyoderma Gangrenosum
Pustule, Atrophic scars, Papule, Skin vesicle, Skin ulcer ORPHA:48104
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Failure to thrive ORPHA:26792
Skin rash, Cutaneous abscess, Respiratory distress, Pleural effusion, Cough, Localized skin lesio... ORPHA:3392
Attenuated Chédiak-Higashi Syndrome
Ocular albinism, Skin ulcer, Epistaxis ORPHA:352723
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Meige Disease
Skin erosion, Pleural effusion, Atypical scarring of skin, Recurrent bacterial skin infections, S... ORPHA:90186
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Hypoplasia of the odontoid process ORPHA:93315
Kid Syndrome
Sparse hair, Corneal erosion, Abnormal eyelash morphology, Recurrent bacterial skin infections, E... ORPHA:477
Pallor, Skin ulcer, Respiratory insufficiency ORPHA:848
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Acne, Pustule, Skin ulcer ORPHA:69126
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Scoliosis, Lumbar hyperlordosis OMIM:602484
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Pyoderma gangrenosum, Acne OMIM:604416
Brooke-Spiegler Syndrome
Skin-colored papule, Nodular changes affecting the eyelids, Skin ulcer, Skin nodule ORPHA:79493
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Hyperlordosis, Back pain OMIM:618129
Mulchandani-Bhoj-Conlin Syndrome
Scoliosis, Hyperlordosis, Cafe-au-lait spot, Failure to thrive, Hypermelanotic macule OMIM:617352
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Cough, Nonproductive cou... ORPHA:1302
Ck Syndrome
Slender build, Scoliosis, Hyperlordosis, Kyphosis OMIM:300831
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress OMIM:604377
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Erythroderma, Conjunctivitis, Failure to thrive, Alopecia OMIM:242150
Myasthenic Syndrome, Congenital, 14
Scoliosis, Hyperlordosis OMIM:616228
Lumbar hyperlordosis, Upper airway obstruction, Spinal stenosis with reduced interpedicular dista... OMIM:100800
Myopathy, Congenital, With Tremor
Scoliosis, Lumbar hyperlordosis, Spinal rigidity OMIM:618524
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis ORPHA:408
Hereditary Acrokeratotic Poikiloderma
Pustule, Thin skin, Erythema, Hypopigmented skin patches, Opacification of the corneal stroma, Sk... ORPHA:2907
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Congenital Disorder Of Glycosylation, Type Iu
Scoliosis, Neonatal respiratory distress, Death in infancy, Respiratory distress OMIM:615042
Bronchiectasis, Pleural effusion, Subcutaneous nodule, Pneumonia, Maculopapular exanthema, Produc... ORPHA:228119
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Erythematous papule, Skin ulcer, Erythematous plaque, Weight loss ORPHA:86884
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Scoliosis, Dyspnea, Respiratory distress, Cough, Lumbar hyperlordosis, Spinal rigidity ORPHA:86812
Toxic Epidermal Necrolysis
Restrictive ventilatory defect, Respiratory distress, Corneal erosion, Cough, Weight loss, Erythe... ORPHA:537
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive ORPHA:91130
Masa Syndrome
Hyperlordosis, Kyphosis OMIM:303350
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Pallor, Purpura OMIM:254450
Congenital Bowing Of Long Bones
Hyperlordosis ORPHA:2292
Scoliosis, Hyperlordosis, Sleep apnea, Abnormal form of the vertebral bodies, Spinal canal stenosis ORPHA:429
Werner Syndrome
Slender build, Premature graying of hair, Abnormal hair whorl, Sparse scalp hair, Cataract, Skin ... ORPHA:902
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Short neck, Penetrating foot ulcers, Neonatal inspiratory stridor OMIM:118230
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Anauxetic Dysplasia 2
Hyperlordosis, Sparse hair, Ovoid vertebral bodies, Cervical spine instability, Thoracolumbar kyp... OMIM:617396
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cough, Respiratory failure, Failure to thrive, Tachypnea OMIM:263000
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Lumbar hyperlordosis OMIM:253320
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Thoracic kyphosis, Lumbar kyphosis in infancy, Lumbar hyperlordosis, Truncal obesity, Frontal bal... ORPHA:3041
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Granulomatosis With Polyangiitis
Cough, Weight loss, Respiratory insufficiency, Rhinorrhea, Conjunctivitis, Keratitis, Sinusitis, ... OMIM:608710
Gaucher Disease Type 2
Cough, Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Neonatal respi... OMIM:610921
Chronic Mucocutaneous Candidiasis
Skin rash, Pruritus, Cough, Erythema, Papule, Skin ulcer ORPHA:1334
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis ORPHA:280333
Dystonia With Ringbinden
Hyperlordosis OMIM:224550
Neurogenic Arthrogryposis Multiplex Congenita
Scoliosis, Respiratory distress, Respiratory insufficiency due to muscle weakness, Skin dimple ORPHA:1143
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Chronic Granulomatous Disease
Chronic pulmonary obstruction, Macule, Sinusitis, Eczema, Hypermelanotic macule, Skin ulcer ORPHA:379
Mucolipidosis Iii Gamma
Scoliosis, Hyperlordosis, Kyphosis, Opacification of the corneal stroma, Short neck OMIM:252605
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Skin fissure, Sparse hair, Erythema, Alopecia, Skin ulcer ORPHA:659
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmonary obstruction, Pleural effusion, C... ORPHA:411703
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory distress, Absent eyebrow, Preauricular skin tag, Microcornea, Respiratory fa... ORPHA:2707
Cataract-Intellectual Disability-Hypogonadism Syndrome
Scoliosis, Cataract, Hyperlordosis, Low posterior hairline ORPHA:1387
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis ORPHA:363454
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Pyoderma gangrenosum, Bronchiectasis, Recurrent pneumonia OMIM:150550
Lumbar hyperlordosis OMIM:146000
Cryoglobulinemic Vasculitis
Petechiae, Keratoconjunctivitis sicca, Skin ulcer, Purpura ORPHA:91138
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Adult Syndrome
Absent nipple, Breast hypoplasia, Thin skin, Melanocytic nevus, Hypoplastic nipples, Sparse scalp... ORPHA:978
Abnormality of skin physiology, Skin ulcer ORPHA:280062
Dyskeratosis Congenita
Scoliosis, Abnormal eyebrow morphology, Sparse hair, Premature graying of hair, Abnormal eyelash ... ORPHA:1775
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Hyperlordosis, Kyphosis, Failure to thrive, Kyphoscoliosis, Pallor ORPHA:536516
Acquired Purpura Fulminans
Skin rash, Macular purpura, Macule, Pyoderma gangrenosum, Erythematous macule ORPHA:49566
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Generalized hirsutism, Skin ulcer ORPHA:2218
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Kyphosis, Vertebral fusion OMIM:606612
Recurrent pneumonia, Allergic rhinitis, Cutaneous abscess, Atopic dermatitis, Bronchiectasis, Ast... ORPHA:443811
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hyperlordosis OMIM:615290
Myopathy, Congenital, With Fiber-Type Disproportion
Scoliosis, Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Lumbar hy... OMIM:255310
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Stridor ORPHA:137935
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Highly arched eyebrow, Hirsutism, Decreased corneal thickness ORPHA:293967
Hajdu-Cheney Syndrome
Scoliosis, Low anterior hairline, Hypoplastic 5th lumbar vertebrae, Biconcave vertebral bodies, K... ORPHA:955
Decreased corneal sensation, Urticarial plaque, Verrucous papule, Hypopigmented macule, Iritis, P... ORPHA:548
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Lumbar hyperlordosis, Failure to thrive, Tongue-like lumbar vertebral d... OMIM:264180
Amoebiasis Due To Free-Living Amoebae
Pustule, Unusual skin infection, Subcutaneous nodule, Pneumonia, Corneal perforation, Sinusitis, ... ORPHA:68
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Blau Syndrome
Intermittent generalized erythematous papular rash, Iritis, Cataract, Eczema, Band keratopathy, E... OMIM:186580
Costello Syndrome
Keratoconus, Abnormal hair morphology, Redundant skin, Woolly hair, Failure to thrive in infancy,... ORPHA:3071
Succinic Acidemia
Respiratory distress OMIM:600335
Retinitis Pigmentosa 75
Pallor OMIM:617023
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Livedoid Vasculopathy
Ecchymosis, Atrophic scars, Erythematous papule, Superficial dermal perivascular inflammatory inf... ORPHA:542643
Irida Syndrome
Pallor ORPHA:209981
Evans Syndrome
Petechiae, Pallor ORPHA:1959
Infantile Systemic Hyalinosis
Subcutaneous nodule, Short neck, Skin ulcer, Failure to thrive ORPHA:2176
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hyperlordosis, Increased vertebral height, Sparse hair, Abnormal vertebral morphology, Small for ... OMIM:616817
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hyperlordosis, Cataract ORPHA:369840
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Ck Syndrome
Slender build, Lumbar hyperlordosis, Kyphoscoliosis ORPHA:251383
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Giant Cell Arteritis
Cough, Epistaxis, Weight loss, Alopecia, Skin ulcer ORPHA:397
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Tachypnea OMIM:267450
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Hyperlordosis, Thoracic scoliosis ORPHA:62
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Respiratory distress, Failure to thrive OMIM:245590
Chronic Graft Versus Host Disease
Wheezing, Dyspnea, Intermittent generalized erythematous papular rash, Bronchiectasis, Pleural ef... ORPHA:99921
Microscopic Polyangiitis
Skin rash, Subcutaneous nodule, Epistaxis, Erythema, Sinusitis, Skin ulcer ORPHA:727
Scoliosis, Platyspondyly, Death in infancy, Respiratory distress ORPHA:166272
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Hyperlordosis, Abnormal posturing, Kyphosis OMIM:128100
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Scoliosis, Cataract, Respiratory distress, Failure to thrive ORPHA:544503
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Retinitis Pigmentosa 51
Pallor OMIM:613464
Multiple Carboxylase Deficiency
Tachypnea, Skin rash, Respiratory distress, Alopecia ORPHA:148
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Molluscoid pseudotumors, Thin skin, Palmoplantar cutis laxa, Decreased pulmonary fun... OMIM:225400
Pruritus, Abnormal hair quantity, Weight loss, Erythema, Respiratory insufficiency, Aplasia/Hypop... ORPHA:221
Skin rash, Pruritus, Subcutaneous nodule, Cough, Papule, Skin ulcer, Inflammatory abnormality of ... ORPHA:556
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Dyspnea, Respiratory distress, Bronchiectasis, Interstitial pneumonitis... OMIM:610913
Kniest Dysplasia
Platyspondyly, Respiratory distress, Coronal cleft vertebrae, Tracheomalacia, Cataract, Short nec... OMIM:156550
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ventilator dependence with inability to wean, Respiratory failure requiring assisted ventilation,... ORPHA:254864
Diffuse Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Dyspnea, Skin ulcer ORPHA:220393
Schimke Immunoosseous Dysplasia
Platyspondyly, Thoracic kyphosis, Ovoid vertebral bodies, Coarse hair, Lumbar hyperlordosis, Opac... OMIM:242900
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Dyspnea, Respiratory distress, Kyphosis, Respiratory insufficiency, Stridor, Nocturnal... OMIM:211530
Mucopolysaccharidosis, Type Iva
Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Platyspondyly, Ovoid vertebral bodies, ... OMIM:253000
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Sleep apnea, Wide anterior fontanel, Redundant skin, Kyphosis, Central apnea, Lumb... OMIM:616482
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Alagille Syndrome
Keratoconus, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Failure to thr... ORPHA:52
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormal hair morphology, Pleural effusion, Abnormal eyelash morphology, Leukonychia, Scaling ski... ORPHA:2526
Mucopolysaccharidosis, Type Ivb
Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Platyspondyly, Ovoid vertebral bodies, ... OMIM:253010
Rodrigues Blindness
Sparse hair, Nasal flaring, Microcornea, Sclerocornea, Fine hair OMIM:268320
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Kyphosis, Lumbar hyperlordosis, Opacification of the corneal stroma, Hu... OMIM:313400
Three M Syndrome 1
Hyperlordosis, Increased vertebral height, Neonatal respiratory distress, Thick eyebrow, Small fo... OMIM:273750
Hereditary Sensory And Autonomic Neuropathy Type 2
Dystrophic fingernails, Hyperlordosis, Dystrophic toenail ORPHA:970
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Spina bifida occulta, Short neck, Vertebral segmentation defect, Abnorm... ORPHA:1797
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Acrocapitofemoral Dysplasia
Scoliosis, Ovoid vertebral bodies, Hyperlordosis ORPHA:63446
Gapo Syndrome
Scoliosis, Keratoconus, Sparse eyebrow, Sparse hair, Wide anterior fontanel, Breast hypoplasia, R... OMIM:230740
Oculocerebrorenal Syndrome Of Lowe
Scoliosis, Buphthalmos, Platyspondyly, Lentiglobus, Atypical scarring of skin, Kyphosis, Death in... ORPHA:534
Pemphigus Erythematosus
Pruritus, Crusting erythematous dermatitis ORPHA:79480
Absent or minimally ossified vertebral bodies, Short neck, Respiratory distress, Abnormal vertebr... ORPHA:66637
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Abnormal form of the vertebral bodies, Hemivertebrae, Respiratory ... ORPHA:2759
Autosomal Dominant Severe Congenital Neutropenia
Recurrent skin infections, Rhinitis, Pneumonia, Pyoderma gangrenosum ORPHA:486
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphosis OMIM:255200
Elliptocytosis 1
Pallor OMIM:611804
Dominant Beta-Thalassemia
Dyspnea, Skin ulcer, Failure to thrive in infancy, Pallor ORPHA:231226
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Respiratory distress OMIM:616733
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Kyphosis, Vertebral fusion, Reduced for... OMIM:607155
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Central hypoventilation, Penetrating foot ulcers OMIM:118301
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Abnormality of the vertebral column, Lumbar hyperlordosis, Abnormality of the inte... ORPHA:99642
Hallermann-Streiff Syndrome
Scoliosis, Hyperlordosis, Sparse hair, Iris coloboma, Tracheomalacia, Sparse scalp hair, Cataract... OMIM:234100
Idiopathic Neonatal Atrial Flutter
Tachypnea, Large for gestational age, Respiratory distress ORPHA:45452
Systemic Sclerosis
Pruritus, Dyspnea, Spotty hypopigmentation, Acral ulceration, Alopecia, Cutaneous sclerotic plaqu... ORPHA:90291
Desbuquois Dysplasia 1
Scoliosis, Hyperlordosis, Platyspondyly, Developmental glaucoma, Kyphosis, Neonatal respiratory d... OMIM:251450
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Cough, Weight loss, Upper airway obstruction, Stridor ORPHA:142
Linear Verrucous Nevus Syndrome
Scoliosis, Verrucous papule, Iris coloboma, Sparse scalp hair, Cataract, Abnormal cornea morphology ORPHA:2611
Sweet Syndrome
Pustule, Acne inversa, Erythematous papule, Pyoderma gangrenosum, Erythematous plaque, Skin vesic... ORPHA:3243
Wieacker-Wolff Syndrome
Scoliosis, Apnea, Hyperlordosis, High anterior hairline, Kyphosis, Neonatal respiratory distress,... OMIM:314580
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Skin rash, Inflammatory abnormality of the skin, Respiratory distress, Chemosis, Corneal erosion,... ORPHA:95455
Odontochondrodysplasia 1
Scoliosis, Platyspondyly, Biconvex vertebral bodies, Respiratory distress, Coronal cleft vertebra... OMIM:184260
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Scoliosis, Hyperlordosis, Failure to thrive OMIM:300986
Congenital Disorder Of Glycosylation, Type Ix
Death in childhood, Respiratory distress, Failure to thrive OMIM:615597
Respiratory distress ORPHA:673
Oculocerebrodental Syndrome
Scoliosis, Hyperlordosis, Developmental cataract, Thoracic kyphosis, Abnormality of the frontal h... ORPHA:557003
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Atlantoaxial instability, Restrictive ventilatory defect, Platyspondyly, Respiratory d... OMIM:183900
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency, Kyphoscoliosis ORPHA:1145
Ramos-Arroyo Syndrome
Decreased corneal sensation, Respiratory distress, High anterior hairline, Decreased body weight,... ORPHA:1051
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Cataract, Abnormality of the vertebral column, Weakness of muscles of respiration ORPHA:52430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Scoliosis, Hyperlordosis, Respiratory insufficiency OMIM:613156
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Spinal rigidity OMIM:609308
Staphylococcal Necrotizing Pneumonia
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Acute infectious pne... ORPHA:36238
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Hyperlordosis, Spinal rigidity ORPHA:267
Gapo Syndrome
Keratoconus, Abnormal form of the vertebral bodies, Early balding, Sparse and thin eyebrow, Alope... ORPHA:2067
Angioosteohypertrophic Syndrome
Scoliosis, Melanocytic nevus, Cataract, Pulmonary embolism, Hyperpigmented nevi, Skin ulcer ORPHA:2346
Pelvis-Shoulder Dysplasia
Iris coloboma, Back pain, Lumbar hyperlordosis, Opacification of the corneal stroma, Spina bifida... OMIM:169550
Familial Keratoacanthoma
Subcutaneous nodule, Papule, Skin ulcer ORPHA:493
Thoracolumbar kyphosis, Restrictive ventilatory defect, Central sleep apnea, Cervical spinal cana... ORPHA:15
Neutrophilic Dermatosis, Acute Febrile
Cystic acne, Acne inversa, Pyoderma gangrenosum, Erythema OMIM:608068
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Myotonic Dystrophy 1
Cataract, Frontal balding, Respiratory distress OMIM:160900
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Granulomatosis With Polyangiitis
Skin rash, Restrictive ventilatory defect, Chronic pulmonary obstruction, Purpura, Cough, Epistax... ORPHA:900
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Shagreen patch, Hyperlordosis ORPHA:2511
Gm1 Gangliosidosis
Scoliosis, Hyperlordosis, Platyspondyly, Abnormal form of the vertebral bodies, Kyphosis, Hirsuti... ORPHA:354
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Jansen-De Vries Syndrome
Hyperlordosis OMIM:617450
Thoracomelic Dysplasia
Hyperlordosis, Low posterior hairline, Short neck ORPHA:1803
Pachyonychia Congenita
Respiratory distress, Eruptive vellus hair cyst, Failure to thrive, Alopecia, Epidermoid cyst, Cu... ORPHA:2309
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Atelectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis OMIM:613157
Senior-Loken Syndrome 8
Pallor OMIM:616307
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Beta-Thalassemia Major
Dyspnea, Skin ulcer, Failure to thrive in infancy, Pallor ORPHA:231214
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Aspiration pneumonia, Abnormal posturing, Weight loss ORPHA:216866
Generalized Eruptive Keratoacanthoma
Pruritus, Conjunctivitis, Keratoconjunctivitis sicca, Abnormal cornea morphology, Papule ORPHA:411777
Episodic Ataxia Type 1
Scoliosis, Respiratory distress, Kyphoscoliosis ORPHA:37612
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea, Abnormal posturing OMIM:614857
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis OMIM:610313
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hyperlordosis OMIM:611588
Avian Influenza
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Pneumonia, Productiv... ORPHA:454836
Huntington Disease-Like 1
Abnormal posturing, Weight loss ORPHA:157941
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Failure to thrive OMIM:618426
Primary Myelofibrosis
Petechiae, Pallor, Ecchymosis, Purpura ORPHA:824
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Scoliosis, Thoracolumbar kyphosis, Spontaneous, recurrent epistaxis, Corneal opacity, Cachexia, S... ORPHA:2072
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Lumbar hyperlordosis, Dyspnea ORPHA:435387
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Failure to thrive OMIM:608799
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer ORPHA:424019
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Platyspondyly, Biconcave vertebral bodies, Thoracic kyphosis, Back pain, Lumbar hyperl... ORPHA:93284
Immunoglobulin A Vasculitis
Skin rash, Restrictive ventilatory defect, Pustule, Purpura, Erythema, Macule, Skin ulcer ORPHA:761
Nail-Patella Syndrome
Scoliosis, Keratoconus, Microphakia, Back pain, Lumbar hyperlordosis, Cataract, Microcornea, Ante... OMIM:161200
Cold Agglutinin Disease
Pallor ORPHA:56425
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Platyspondyly, Restrictive ventilatory defect, Respiratory distress, Dermal translucen... ORPHA:536467
Angelman Syndrome
Scoliosis, Keratoconus, Iris hypopigmentation, Poor eye contact, Fair hair, Astigmatism, Obesity ORPHA:72
Hereditary Spherocytosis
Pallor, Maculopapular exanthema, Skin ulcer ORPHA:822
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Atelectasis, Neonatal asphyxia, Aspiration pneumonia, Pulmonary a... ORPHA:70588
Myotonia Permanens
Hyperlordosis, Dyspnea, Asthma ORPHA:99735
Three M Syndrome 3
Hyperlordosis, Increased vertebral height, Decreased body weight, Small for gestational age, Shor... OMIM:614205
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Respiratory distress, Kyphoscoliosis ORPHA:98805
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Respiratory insufficiency due to muscle weakness, ... ORPHA:98863
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Restrictive ventilatory defect, Wheezing, Respiratory distress, Oxygen desaturation on exertion, ... OMIM:610978
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Pallor, Skin ulcer ORPHA:231222
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Scoliosis, Low anterior hairline, Respiratory distress, Failure to thrive ORPHA:329178
Primary Sjögren Syndrome
Purpura, Nonproductive cough, Corneal perforation, Lichenoid skin lesion, Keratoconjunctivitis si... ORPHA:289390
Wiskott-Aldrich Syndrome
Dyspnea, Chronic pulmonary obstruction, Purpura, Epistaxis, Conjunctivitis, Petechiae, Keratitis,... ORPHA:906
Arterial Tortuosity Syndrome
Scoliosis, Keratoconus, Dyspnea, Cardiorespiratory arrest, Respiratory distress, Thin skin, Redun... ORPHA:3342
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Developmental cataract, Wide anterior fontanel, Respiratory distress OMIM:231680
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Scoliosis, Restrictive ventilatory defect, Hyperlordosis, Pneumonia OMIM:253700
Schwartz-Jampel Syndrome, Type 1
Platyspondyly, Coronal cleft vertebrae, Long eyelashes in irregular rows, Lumbar hyperlordosis, C... OMIM:255800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis OMIM:613818
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Respiratory distress, Dry skin ORPHA:226313
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Irregularity of vertebral bodies, Hyperlordosis, Platyspondyly, Beaking of vertebral b... ORPHA:1159
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Typical Nemaline Myopathy
Scoliosis, Hyperlordosis, Kyphosis, Respiratory insufficiency, Spinal rigidity, Short neck, Noctu... ORPHA:171436
Chime Syndrome
Sparse hair, Corneal opacity, Erythema, Fine hair, Skin ulcer ORPHA:3474
Respiratory distress, Failure to thrive ORPHA:370924
Blau Syndrome
Skin rash, Dyspnea, Erythema, Cataract, Keratitis, Pulmonary arterial hypertension, Papule, Eryth... ORPHA:90340
Schwartz-Jampel Syndrome
Scoliosis, Long eyelashes in irregular rows, Death in infancy, Respiratory insufficiency, Pulmona... ORPHA:800
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Lumbar hyperlordosis, Platyspondyly, Short neck OMIM:184000
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Vici Syndrome
Hypopigmentation of hair, Albinism, Developmental cataract, Abnormal posturing, Ocular albinism, ... OMIM:242840
Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Cer... ORPHA:750
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Scoliosis, Hyperlordosis, Abnormal vertebral morphology, Cataract, Thick eyebrow, Keratoconjuncti... OMIM:616007
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis OMIM:613723
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Skin rash, Purpura, Recurrent sinusitis, Eczema, Erythema nodosum, Skin ulcer OMIM:615688
Multiple Metaphyseal Dysplasia
Hyperlordosis ORPHA:93430
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Scoliosis, Respiratory distress, Sacral dimple, Cataract, Hypertrichosis, Unilateral breast hypop... OMIM:300968
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Platyspondyly, Hyperlordosis, C1-C2 subluxation, Hypoplasia of the odontoid process OMIM:184250
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive ORPHA:79312
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Microlissencephaly-Micromelia Syndrome
Generalized hypertrichosis, Short neck, Respiratory distress, Failure to thrive ORPHA:50810
Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Respiratory insufficiency due to muscle weakness, ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Respiratory insufficiency due to muscle weakness, ... ORPHA:98853
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Irregular vertebral endplates, Lumbar hyperlordosis, Cervical subluxation, Kyphosc... OMIM:184100
Catastrophic Antiphospholipid Syndrome
Pulmonary arterial hypertension, Pulmonary embolism, Skin ulcer ORPHA:464343
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Respiratory failure, Tachypnea, Hypoxemia ORPHA:178320
Mucopolysaccharidosis Type 4
Scoliosis, Hyperlordosis, Platyspondyly, Kyphosis, Corneal opacity, Spinal canal stenosis, Short ... ORPHA:582
Schimke Immuno-Osseous Dysplasia
Platyspondyly, Ovoid vertebral bodies, Corneal opacity, Lumbar hyperlordosis, Small for gestation... ORPHA:1830
Warburg-Cinotti Syndrome
Decreased corneal thickness, Thin skin, Erythema, Symblepharon, Corneal neovascularization, Limba... OMIM:618175
Muscular Dystrophy, Duchenne Type
Scoliosis, Hyperlordosis, Hypoventilation, Respiratory insufficiency, Respiratory failure OMIM:310200
Atypical Werner Syndrome
Developmental cataract, Intervertebral disc degeneration, Abnormal hair quantity, Abnormal hair m... ORPHA:79474
Campomelic Dysplasia
Apnea, Hypoplastic cervical vertebrae, Wide anterior fontanel, Respiratory distress, Poorly ossif... OMIM:114290
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Hyperlordosis, Kyphosis, Respiratory insufficiency, Stridor OMIM:181405
Farber Disease
Periarticular subcutaneous nodules, Respiratory distress, Corneal opacity, Respiratory insufficie... ORPHA:333
Dravet Syndrome
Pallor ORPHA:33069
Lumbosacral meningocele, Respiratory distress, Tracheomalacia, Respiratory insufficiency, Absent ... OMIM:608022
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Lumbar hyperlordosis OMIM:609325
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Short neck, Fused cervical vertebrae ORPHA:2522
Tetrasomy 5P
Wide anterior fontanel, Respiratory distress, Preauricular pit, Redundant neck skin, Failure to t... ORPHA:3309
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis ORPHA:1192
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis ORPHA:156728
Hyperlordosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Kyphosis, Abno... ORPHA:763
Vernal Keratoconjunctivitis
Pruritus, Abnormal conjunctiva morphology, Punctate keratitis, Abnormal cornea morphology, Cornea... ORPHA:70476
Skin rash, Chapped lip, Respiratory distress, Localized skin lesion, Acute infectious pneumonia, ... ORPHA:707
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Thyroid Lymphoma
Upper airway obstruction, Stridor, Dyspnea, Respiratory distress ORPHA:97285
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Hyperlordosis, Platyspondyly, Abnormal vertebral morphology, Central vertebral hypopla... ORPHA:93352
Nipah Virus Disease
Cough, Respiratory distress ORPHA:99825
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Spinal rigidity, Obesity ORPHA:98855
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Sparse hair, Absent eyelashes, Respiratory distress, Thin skin, Absent eyebrow, Hy... OMIM:305100
Duchenne And Becker Muscular Dystrophy
Scoliosis, Hyperlordosis ORPHA:262
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive ORPHA:927
Mucopolysaccharidosis-Plus Syndrome
Low anterior hairline, Short neck, Respiratory distress, Hirsutism, Coarse hair, Synophrys, Long ... OMIM:617303
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Wheezing, Respiratory distress, Cough, Weight loss, Respiratory failure, Failure to thrive, Hypox... ORPHA:1549
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosis, Narrow v... OMIM:602557
Urticarial plaque, Skin rash, Verrucous papule, Pruritus, Respiratory distress, Indurated nodule,... ORPHA:228123
Congenital Myasthenic Syndrome
Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Apneic episodes precip... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Apneic episodes precip... ORPHA:98914
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Immotile cilia, Sinusitis OMIM:606763
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Tay-Sachs Disease
Pallor OMIM:272800
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Intermittent hyper... ORPHA:348
Scoliosis, Absent/hypoplastic coccyx, Anterior beaking of lumbar vertebrae, Lumbar hyperlordosis,... OMIM:230000
Scoliosis, Dermoid cyst, Widow's peak, Iris coloboma, Preauricular skin tag, Lumbar hyperlordosis... ORPHA:391474
Laryngeal Web, Familial
Stridor, Respiratory distress OMIM:150360
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Severe Generalized Junctional Epidermolysis Bullosa
Dyspnea, Respiratory distress, Skin erosion, Aplasia cutis congenita, Skin plaque, Pyoderma, Pneu... ORPHA:79404
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Skin rash, Pustule, Respiratory distress, Failure to thrive in infancy, Fused cervical vertebrae OMIM:612852
Synaptic Congenital Myasthenic Syndromes
Scoliosis, Sleep apnea, Hypoventilation, Respiratory distress, Exertional dyspnea, Respiratory in... ORPHA:98915
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis OMIM:616852
Congenital Laryngeal Web
Stridor, Respiratory distress ORPHA:2374
Spinocerebellar Ataxia, X-Linked 3
Episodic hypoventilation, Episodic respiratory distress, Death in infancy, Head titubation OMIM:301790
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Myopathy, Centronuclear, 1
Hyperlordosis OMIM:160150
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Overweight, Respiratory distress, Episodic tachypnea, Pneum... ORPHA:26793
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Poor eye contact ORPHA:542306
American Trypanosomiasis
Pallor ORPHA:3386
Cutaneous abscess, Dyspnea, Respiratory distress, Pleural effusion, Emphysema, Nonproductive coug... ORPHA:31204
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Platyspondyly, Laryngotracheomalacia, Abnormal respiratory system physiology, Kyphosis... ORPHA:94068
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Vertebral fusion, Butterfly vertebrae ORPHA:313892
Lateral Meningocele Syndrome
Scoliosis, Hyperlordosis, Low posterior hairline, Abnormal form of the vertebral bodies, Kyphosis... ORPHA:2789
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Respiratory distress, Thick hair, Thoracic kyphosis, Lumbar kyphosis, Long eyelashes,... ORPHA:505248
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Facioscapulohumeral Dystrophy
Hyperlordosis, Abnormal eyelash morphology ORPHA:269
Cohen Syndrome
Lumbar hyperlordosis, Thick eyebrow, Small for gestational age, Childhood-onset truncal obesity, ... OMIM:216550
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Irregular vertebral endplates, Lumbar hype... OMIM:609616
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory distress, Central hypoventilation, Respiratory failure, Hypertrichosis, Failur... ORPHA:70474
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Parkes Weber Syndrome
Back pain, Scaling skin, Capillary malformation, Erythematous plaque, Skin ulcer ORPHA:90307
Localized skin lesion, Tachypnea, Respiratory distress ORPHA:3299
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Interstitial pneumonitis, Eczematoid dermatitis, Pneumonia, Failure to thri... ORPHA:37042
Prader-Willi Syndrome Due To Translocation
Scoliosis, Iris hypopigmentation, Hypopigmentation of hair, Impaired social interactions, Respira... ORPHA:177907
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Wide anterior fontanel, Respiratory distress, Tracheomalacia, Neonatal respiratory distress, Redu... OMIM:217980
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Iris hypopigmentation, Hyperlordosis, Platyspondyly, Astigmatism ORPHA:85167
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Abnormal form of the vertebral bodies ORPHA:2831
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Scoliosis, Hyperlordosis, Low posterior hairline, Vertebral segmentation defect ORPHA:1323
Biotinidase Deficiency
Apnea, Skin rash, Respiratory distress, Eczematoid dermatitis, Conjunctivitis, Alopecia, Hyperven... ORPHA:79241
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Corneal scarring, Opacification of the corneal stroma, Keratitis, Acral ulcera... OMIM:256800
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis OMIM:165800
Three M Syndrome 2
Hyperlordosis, Lumbar hyperlordosis, Short neck, Small for gestational age OMIM:612921
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyperlordosis OMIM:162370
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory distress, Respiratory insufficiency, Cataract, Respiratory failure OMIM:608836
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Platyspondyly, Lumbar hyperlordosis OMIM:271650
3Mc Syndrome
Scoliosis, Highly arched eyebrow, Hyperlordosis, Caudal appendage, Spina bifida occulta, Prominen... ORPHA:293843
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Multiple Acyl-Coa Dehydrogenase Deficiency
Hyperlordosis, Restrictive ventilatory defect, Dyspnea, Cardiorespiratory arrest, Wide anterior f... ORPHA:26791
Bacterial Toxic-Shock Syndrome
Skin rash, Respiratory distress, Localized skin lesion, Scaling skin, Pneumonia, Sinusitis, Tachy... ORPHA:36234
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Sparse lateral eyebrow, Aspiration pneumonia, Recur... ORPHA:314655
Hypoglossia With Situs Inversus
Upper airway obstruction, Respiratory distress OMIM:612776
Congenital Muscular Dystrophy With Cerebellar Involvement
Lumbar hyperlordosis, Cataract, Megalocornea, Abnormality iris morphology ORPHA:370959
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Trichorhinophalangeal Syndrome Type 1 And 3
Scoliosis, Hyperlordosis, Sparse hair, Leukonychia, Sparse and thin eyebrow, Sparse eyelashes ORPHA:77258
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scoliosis, Hyperlordosis, Coronal cleft vertebrae, Neonatal respiratory distress, Butterfly verte... OMIM:618870
Microphthalmia With Linear Skin Defects Syndrome
Dyspnea, Respiratory distress, Abnormal eyelash morphology, Posterior embryotoxon, Corneal opacit... ORPHA:2556
Moebius Syndrome
Short neck, Respiratory distress OMIM:157900
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Idiopathic Hypereosinophilic Syndrome
Pruritus, Inflammatory abnormality of the skin, Dyspnea, Respiratory distress, Pleural effusion, ... ORPHA:3260
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Respiratory distress, Failure to thrive OMIM:619272
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Cachexia, Failure to thrive, Hypopigmented skin patches ORPHA:206436
Letterer-Siwe Disease
Pallor OMIM:246400
Mucopolysaccharidosis, Type Vi
Ovoid vertebral bodies, Hirsutism, Anterior wedging of L2, Lumbar hyperlordosis, Opacification of... OMIM:253200