commit 0e40df46d91bf2928e75d974004dbc3f655d5dc3 Author: David Lagorce Date: Wed Sep 1 11:11:29 2021 +0200 SEPT 2021 diff --git a/Rare diseases with associated phenotypes/en_product4.xml b/Rare diseases with associated phenotypes/en_product4.xml old mode 100644 new mode 100755 index 48b45dc..95ddb18 --- a/Rare diseases with associated phenotypes/en_product4.xml +++ b/Rare diseases with associated phenotypes/en_product4.xml @@ -1,5 +1,5 @@ - + Creative Commons Attribution 4.0 International @@ -7,7 +7,7 @@ https://creativecommons.org/licenses/by/4.0/legalcode - + 58 @@ -1780,7 +1780,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -2088,7 +2088,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -3931,7 +3931,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -7329,7 +7329,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -12289,7 +12289,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -17653,7 +17653,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -20631,7 +20631,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -21280,7 +21280,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -22057,7 +22057,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -30982,7 +30982,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -33898,7 +33898,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -34666,7 +34666,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -36053,7 +36053,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -43508,7 +43508,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -49303,7 +49303,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -51901,7 +51901,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -52220,7 +52220,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -55232,7 +55232,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -56348,7 +56348,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -72962,7 +72962,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -74077,7 +74077,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -75491,7 +75491,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -76645,7 +76645,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -79479,7 +79479,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -84560,7 +84560,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -84879,7 +84879,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -106695,7 +106695,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -107240,7 +107240,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -108517,7 +108517,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -138790,7 +138790,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -146186,7 +146186,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -151581,7 +151581,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -154124,7 +154124,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -154870,7 +154870,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -168722,7 +168722,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -169219,7 +169219,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -171116,7 +171116,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -171634,7 +171634,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -172699,7 +172699,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -172798,7 +172798,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -172877,7 +172877,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -173216,7 +173216,7 @@ HP:0003185 - Short sacroiliac notch + Short greater sciatic notch Very frequent (99-80%) @@ -179475,7 +179475,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -180699,7 +180699,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -183060,7 +183060,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -186320,7 +186320,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -190569,7 +190569,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -192807,7 +192807,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -212849,7 +212849,7 @@ HP:0040045 - Abnormality of the hemidiaphragms + Abnormal hemidiaphragm morphology Occasional (29-5%) @@ -212998,7 +212998,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -213315,7 +213315,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -214926,7 +214926,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -217394,7 +217394,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -229895,7 +229895,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -232283,7 +232283,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -232851,7 +232851,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -234969,7 +234969,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -248895,7 +248895,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -252816,7 +252816,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -269719,345 +269719,6 @@ y 2016-06-01 00:00:00.0 - - - 340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=340 - Hemorrhagic fever-renal syndrome - - Disease - - - Disorder - - - - - HP:0000083 - Renal insufficiency - - - Frequent (79-30%) - - - - - - HP:0000091 - Abnormal renal tubule morphology - - - Frequent (79-30%) - - - - - - HP:0000093 - Proteinuria - - - Frequent (79-30%) - - - - - - HP:0000509 - Conjunctivitis - - - Frequent (79-30%) - - - - - - HP:0000545 - Myopia - - - Occasional (29-5%) - - - - - - HP:0000613 - Photophobia - - - Frequent (79-30%) - - - - - - HP:0000822 - Hypertension - - - Occasional (29-5%) - - - - - - HP:0001637 - Abnormal myocardium morphology - - - Occasional (29-5%) - - - - - - HP:0001697 - Abnormal pericardium morphology - - - Occasional (29-5%) - - - - - - HP:0001873 - Thrombocytopenia - - - Frequent (79-30%) - - - - - - HP:0001945 - Fever - - - Very frequent (99-80%) - - - - - - HP:0001969 - Tubulointerstitial abnormality - - - Frequent (79-30%) - - - - - - HP:0001974 - Leukocytosis - - - Frequent (79-30%) - - - - - - HP:0002027 - Abdominal pain - - - Frequent (79-30%) - - - - - - HP:0002076 - Migraine - - - Frequent (79-30%) - - - - - - HP:0002093 - Respiratory insufficiency - - - Frequent (79-30%) - - - - - - HP:0002105 - Hemoptysis - - - Occasional (29-5%) - - - - - - HP:0002113 - Pulmonary infiltrates - - - Frequent (79-30%) - - - - - - HP:0002170 - Intracranial hemorrhage - - - Occasional (29-5%) - - - - - - HP:0002202 - Pleural effusion - - - Frequent (79-30%) - - - - - - HP:0002239 - Gastrointestinal hemorrhage - - - Occasional (29-5%) - - - - - - HP:0002615 - Hypotension - - - Occasional (29-5%) - - - - - - HP:0002829 - Arthralgia - - - Frequent (79-30%) - - - - - - HP:0002910 - Elevated hepatic transaminase - - - Frequent (79-30%) - - - - - - HP:0003075 - Hypoproteinemia - - - Frequent (79-30%) - - - - - - HP:0003326 - Myalgia - - - Frequent (79-30%) - - - - - - HP:0011675 - Arrhythmia - - - Occasional (29-5%) - - - - - - HP:0011896 - Subconjunctival hemorrhage - - - Frequent (79-30%) - - - - - - HP:0012378 - Fatigue - - - Very frequent (99-80%) - - - - - - HP:0100520 - Oliguria - - - Frequent (79-30%) - - - - - - HP:0100576 - Amaurosis fugax - - - Occasional (29-5%) - - - - - - HP:0100750 - Atelectasis - - - Frequent (79-30%) - - - - - - - y - y - 2016-06-01 00:00:00.0 - 3162 @@ -270243,7 +269904,7 @@ HP:0004332 - Abnormality of lymphocytes + Abnormal lymphocyte morphology Very frequent (99-80%) @@ -270502,7 +270163,7 @@ HP:0004332 - Abnormality of lymphocytes + Abnormal lymphocyte morphology Very frequent (99-80%) @@ -272981,7 +272642,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -275283,7 +274944,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -277532,7 +277193,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -279525,7 +279186,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -281800,7 +281461,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -283325,7 +282986,7 @@ HP:0004332 - Abnormality of lymphocytes + Abnormal lymphocyte morphology Frequent (79-30%) @@ -285088,7 +284749,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -286631,7 +286292,7 @@ HP:0004332 - Abnormality of lymphocytes + Abnormal lymphocyte morphology Very frequent (99-80%) @@ -292383,65 +292044,6 @@ y 2016-06-01 00:00:00.0 - - - 737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=737 - Porokeratosis plantaris palmaris et disseminata - - Disease - - - Disorder - - - - - HP:0000982 - Palmoplantar keratoderma - - - Very frequent (99-80%) - - - - - - HP:0005595 - Generalized hyperkeratosis - - - Very frequent (99-80%) - - - - - - HP:0008065 - Aplasia/Hypoplasia of the skin - - - Very frequent (99-80%) - - - - - - HP:0008069 - Neoplasm of the skin - - - Occasional (29-5%) - - - - - - - y - y - 2016-06-01 00:00:00.0 - 841 @@ -293730,7 +293332,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -294671,83 +294273,133 @@ Disorder - - - - HP:0000962 - Hyperkeratosis + + + + HP:0000972 + Palmoplantar hyperkeratosis Very frequent (99-80%) - - - HP:0000975 - Hyperhidrosis + + + HP:0025092 + Epidermal acanthosis - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0001482 - Subcutaneous nodule + + + HP:0025167 + Fragmented elastic fibers in the dermis Very frequent (99-80%) - - - HP:0001597 - Abnormality of the nail + + + HP:0045059 + Hyperkeratotic papule + + + Very frequent (99-80%) + + + + + + HP:0002955 + Granulomatosis Frequent (79-30%) - - - HP:0200016 - Acrokeratosis + + + HP:0025114 + Hypergranulosis - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0200034 - Papule + + + HP:0025507 + Yellow papule - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0200043 - Verrucae + + + HP:0040162 + Orthokeratosis - - Very frequent (99-80%) + + Frequent (79-30%) + + + + + + HP:0006089 + Palmar hyperhidrosis + + + Occasional (29-5%) + + + + + + HP:0025509 + Piezogenic pedal papules + + + Occasional (29-5%) + + + + + + HP:0200035 + Skin plaque + + + Occasional (29-5%) + + + + + + HP:0002814 + Abnormality of the lower limb + + + Very rare (<4-1%) - + 29634304[PMID]_29080320[PMID] y y - 2016-06-01 00:00:00.0 + 2021-08-27 00:00:00.0 @@ -295061,7 +294713,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -295872,7 +295524,7 @@ HP:0004332 - Abnormality of lymphocytes + Abnormal lymphocyte morphology Frequent (79-30%) @@ -297372,7 +297024,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -322489,275 +322141,6 @@ y 2016-06-01 00:00:00.0 - - - 85167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85167 - Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome - - Disease - - - Disorder - - - - - HP:0000483 - Astigmatism - - - Frequent (79-30%) - - - - - - HP:0000545 - Myopia - - - Frequent (79-30%) - - - - - - HP:0000548 - Cone/cone-rod dystrophy - - - Very frequent (99-80%) - - - - - - HP:0000551 - Color vision defect - - - Frequent (79-30%) - - - - - - HP:0000572 - Visual loss - - - Frequent (79-30%) - - - - - - HP:0000613 - Photophobia - - - Frequent (79-30%) - - - - - - HP:0000639 - Nystagmus - - - Frequent (79-30%) - - - - - - HP:0000662 - Nyctalopia - - - Frequent (79-30%) - - - - - - HP:0000772 - Abnormality of the ribs - - - Frequent (79-30%) - - - - - - HP:0000926 - Platyspondyly - - - Very frequent (99-80%) - - - - - - HP:0001129 - Large central visual field defect - - - Frequent (79-30%) - - - - - - HP:0001510 - Growth delay - - - Very frequent (99-80%) - - - - - - HP:0002650 - Scoliosis - - - Frequent (79-30%) - - - - - - HP:0002657 - Spondylometaphyseal dysplasia - - - Very frequent (99-80%) - - - - - - HP:0002996 - Limited elbow movement - - - Occasional (29-5%) - - - - - - HP:0003021 - Metaphyseal cupping - - - Very frequent (99-80%) - - - - - - HP:0003184 - Decreased hip abduction - - - Very frequent (99-80%) - - - - - - HP:0003307 - Hyperlordosis - - - Frequent (79-30%) - - - - - - HP:0003510 - Severe short stature - - - Very frequent (99-80%) - - - - - - HP:0004279 - Short palm - - - Occasional (29-5%) - - - - - - HP:0006487 - Bowing of the long bones - - - Very frequent (99-80%) - - - - - - HP:0007730 - Iris hypopigmentation - - - Very frequent (99-80%) - - - - - - HP:0007994 - Peripheral visual field loss - - - Frequent (79-30%) - - - - - - HP:0008499 - High hypermetropia - - - Frequent (79-30%) - - - - - - HP:0008905 - Rhizomelia - - - Very frequent (99-80%) - - - - - - 24387990[PMID] - y - y - 2016-06-01 00:00:00.0 - 85170 @@ -328832,7 +328215,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -329121,7 +328504,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -329254,105 +328637,6 @@ y 2016-06-01 00:00:00.0 - - - 79501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79501 - Punctate palmoplantar keratoderma type 1 - - Disease - - - Disorder - - - - - HP:0000982 - Palmoplantar keratoderma - - - Very frequent (99-80%) - - - - - - HP:0001597 - Abnormality of the nail - - - Occasional (29-5%) - - - - - - HP:0002894 - Neoplasm of the pancreas - - - Frequent (79-30%) - - - - - - HP:0003002 - Breast carcinoma - - - Frequent (79-30%) - - - - - - HP:0003003 - Colon cancer - - - Frequent (79-30%) - - - - - - HP:0005584 - Renal cell carcinoma - - - Frequent (79-30%) - - - - - - HP:0006740 - Transitional cell carcinoma of the bladder - - - Frequent (79-30%) - - - - - - HP:0012189 - Hodgkin lymphoma - - - Frequent (79-30%) - - - - - - 8733379[PMID] - y - y - 2016-06-01 00:00:00.0 - 79481 @@ -335286,7 +334570,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -340800,553 +340084,6 @@ y 2016-06-01 00:00:00.0 - - - 93316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93316 - Spondylometaphyseal dysplasia, Schmidt type - - Disease - - - Disorder - - - - - HP:0000545 - Myopia - - - Very frequent (99-80%) - - - - - - HP:0000926 - Platyspondyly - - - Frequent (79-30%) - - - - - - HP:0001373 - Joint dislocation - - - Frequent (79-30%) - - - - - - HP:0002657 - Spondylometaphyseal dysplasia - - - Very frequent (99-80%) - - - - - - HP:0002751 - Kyphoscoliosis - - - Very frequent (99-80%) - - - - - - HP:0002857 - Genu valgum - - - Very frequent (99-80%) - - - - - - HP:0002983 - Micromelia - - - Very frequent (99-80%) - - - - - - HP:0003019 - Abnormality of the wrist - - - Very frequent (99-80%) - - - - - - HP:0003026 - Short long bone - - - Very frequent (99-80%) - - - - - - HP:0004322 - Short stature - - - Very frequent (99-80%) - - - - - - HP:0008839 - Hypoplastic pelvis - - - Frequent (79-30%) - - - - - - HP:0100255 - Metaphyseal dysplasia - - - Very frequent (99-80%) - - - - - - 3368247[PMID] - y - y - 2016-06-01 00:00:00.0 - - - - 93315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93315 - Spondylometaphyseal dysplasia, 'corner fracture' type - - Disease - - - Disorder - - - - - HP:0001636 - Tetralogy of Fallot - - - Occasional (29-5%) - - - - - - HP:0001763 - Pes planus - - - Occasional (29-5%) - - - - - - HP:0002650 - Scoliosis - - - Occasional (29-5%) - - - - - - HP:0002657 - Spondylometaphyseal dysplasia - - - Very frequent (99-80%) - - - - - - HP:0002757 - Recurrent fractures - - - Very frequent (99-80%) - - - - - - HP:0002808 - Kyphosis - - - Occasional (29-5%) - - - - - - HP:0002812 - Coxa vara - - - Very frequent (99-80%) - - - - - - HP:0002857 - Genu valgum - - - Occasional (29-5%) - - - - - - HP:0002983 - Micromelia - - - Very frequent (99-80%) - - - - - - HP:0003019 - Abnormality of the wrist - - - Very frequent (99-80%) - - - - - - HP:0003025 - Metaphyseal irregularity - - - Very frequent (99-80%) - - - - - - HP:0003300 - Ovoid vertebral bodies - - - Very frequent (99-80%) - - - - - - HP:0003307 - Hyperlordosis - - - Frequent (79-30%) - - - - - - HP:0003311 - Hypoplasia of the odontoid process - - - Very frequent (99-80%) - - - - - - HP:0003502 - Mild short stature - - - Very frequent (99-80%) - - - - - - 15666313[PMID]_15666313[PMID] - y - y - 2016-06-01 00:00:00.0 - - - - 93314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93314 - Spondylometaphyseal dysplasia, Kozlowski type - - Disease - - - Disorder - - - - - HP:0000926 - Platyspondyly - - - Very frequent (99-80%) - - - - - - HP:0001288 - Gait disturbance - - - Very frequent (99-80%) - - - - - - HP:0002657 - Spondylometaphyseal dysplasia - - - Very frequent (99-80%) - - - - - - HP:0002812 - Coxa vara - - - Very frequent (99-80%) - - - - - - HP:0003015 - Flared metaphysis - - - Very frequent (99-80%) - - - - - - HP:0004322 - Short stature - - - Very frequent (99-80%) - - - - - - HP:0010306 - Short thorax - - - Very frequent (99-80%) - - - - - - HP:0000348 - High forehead - - - Frequent (79-30%) - - - - - - HP:0000470 - Short neck - - - Frequent (79-30%) - - - - - - HP:0000768 - Pectus carinatum - - - Frequent (79-30%) - - - - - - HP:0001156 - Brachydactyly - - - Frequent (79-30%) - - - - - - HP:0001376 - Limitation of joint mobility - - - Frequent (79-30%) - - - - - - HP:0002650 - Scoliosis - - - Frequent (79-30%) - - - - - - HP:0002750 - Delayed skeletal maturation - - - Frequent (79-30%) - - - - - - HP:0002808 - Kyphosis - - - Frequent (79-30%) - - - - - - HP:0002857 - Genu valgum - - - Frequent (79-30%) - - - - - - HP:0003037 - Enlarged joints - - - Frequent (79-30%) - - - - - - HP:0005280 - Depressed nasal bridge - - - Frequent (79-30%) - - - - - - HP:0000774 - Narrow chest - - - Occasional (29-5%) - - - - - - HP:0003311 - Hypoplasia of the odontoid process - - - Occasional (29-5%) - - - - - - HP:0005930 - Abnormality of epiphysis morphology - - - Occasional (29-5%) - - - - - - HP:0006660 - Aplastic clavicles - - - Occasional (29-5%) - - - - - - 20577006[PMID] - y - y - 2016-06-01 00:00:00.0 - 93351 @@ -358181,7 +356918,7 @@ HP:0004332 - Abnormality of lymphocytes + Abnormal lymphocyte morphology Very frequent (99-80%) @@ -360618,108 +359355,90 @@ Disorder - - - - HP:0000365 - Hearing impairment - - - Occasional (29-5%) - - - - - - HP:0000509 - Conjunctivitis + + + + HP:0001945 + Fever - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0000988 - Skin rash + + + HP:0003496 + Increased circulating IgM level - - Occasional (29-5%) + + Very frequent (99-80%) - + + Diagnostic criterion + - - - HP:0001250 - Seizures + + + HP:0005268 + Spontaneous abortion - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0001254 - Lethargy + + + HP:0020071 + Viremia - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0001482 - Subcutaneous nodule + + + HP:0025406 + Asthenia - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0001873 - Thrombocytopenia + + + HP:0400008 + Menometrorrhagia - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0001882 - Leukopenia + + + HP:0001324 + Muscle weakness Frequent (79-30%) - - - HP:0001945 - Fever - - - Very frequent (99-80%) - - - - - - HP:0002014 - Diarrhea + + + HP:0002015 + Dysphagia Frequent (79-30%) - + HP:0002017 Nausea and vomiting @@ -360729,7 +359448,7 @@ - + HP:0002027 Abdominal pain @@ -360739,182 +359458,192 @@ - - - HP:0002202 - Pleural effusion + + + HP:0002315 + Headache - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0002239 - Gastrointestinal hemorrhage + + + HP:0012735 + Cough - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0002315 - Headache + + + HP:0025439 + Pharyngitis Frequent (79-30%) - - - HP:0002321 - Vertigo + + + HP:0100749 + Chest pain Frequent (79-30%) - - - HP:0002516 - Increased intracranial pressure + + + HP:0000282 + Facial edema Occasional (29-5%) - - - HP:0002716 - Lymphadenopathy + + + HP:0000365 + Hearing impairment Occasional (29-5%) - - - HP:0002829 - Arthralgia + + + HP:0000509 + Conjunctivitis - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0003326 - Myalgia + + + HP:0000952 + Jaundice - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0005268 - Spontaneous abortion + + + HP:0001250 + Seizures - - Very frequent (99-80%) + + Occasional (29-5%) - - - HP:0006543 - Cardiorespiratory arrest + + + HP:0001622 + Premature birth Occasional (29-5%) - - - HP:0012375 - Chemosis + + + HP:0001892 + Abnormal bleeding - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0012378 - Fatigue + + + HP:0002014 + Diarrhea - - Very frequent (99-80%) + + Occasional (29-5%) - - - HP:0012735 - Cough + + + HP:0002094 + Dyspnea - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0100540 - Palpebral edema + + + HP:0002829 + Arthralgia - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0100749 - Chest pain + + + HP:0003418 + Back pain - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0100776 - Recurrent pharyngitis + + + HP:0031273 + Shock - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0400008 - Menometrorrhagia + + + HP:0100520 + Oliguria - - Very frequent (99-80%) + + Occasional (29-5%) + + + + + + HP:0100806 + Sepsis + + + Occasional (29-5%) - + 28701331[PMID]_32125412[PMID]_31518896[PMID] y y - 2016-06-01 00:00:00.0 + 2021-08-30 00:00:00.0 @@ -361105,265 +359834,6 @@ y 2016-06-01 00:00:00.0 - - - 99826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99826 - Marburg hemorrhagic fever - - Disease - - - Disorder - - - - - HP:0000790 - Hematuria - - - Frequent (79-30%) - - - - - - HP:0000952 - Jaundice - - - Frequent (79-30%) - - - - - - HP:0000988 - Skin rash - - - Occasional (29-5%) - - - - - - HP:0001254 - Lethargy - - - Occasional (29-5%) - - - - - - HP:0001733 - Pancreatitis - - - Frequent (79-30%) - - - - - - HP:0001824 - Weight loss - - - Frequent (79-30%) - - - - - - HP:0001873 - Thrombocytopenia - - - Frequent (79-30%) - - - - - - HP:0001882 - Leukopenia - - - Frequent (79-30%) - - - - - - HP:0001892 - Abnormal bleeding - - - Occasional (29-5%) - - - - - - HP:0001945 - Fever - - - Very frequent (99-80%) - - - - - - HP:0002014 - Diarrhea - - - Frequent (79-30%) - - - - - - HP:0002017 - Nausea and vomiting - - - Frequent (79-30%) - - - - - - HP:0002027 - Abdominal pain - - - Frequent (79-30%) - - - - - - HP:0002239 - Gastrointestinal hemorrhage - - - Frequent (79-30%) - - - - - - HP:0002315 - Headache - - - Frequent (79-30%) - - - - - - HP:0002829 - Arthralgia - - - Frequent (79-30%) - - - - - - HP:0002910 - Elevated hepatic transaminase - - - Frequent (79-30%) - - - - - - HP:0003326 - Myalgia - - - Frequent (79-30%) - - - - - - HP:0011896 - Subconjunctival hemorrhage - - - Frequent (79-30%) - - - - - - HP:0012378 - Fatigue - - - Very frequent (99-80%) - - - - - - HP:0012735 - Cough - - - Frequent (79-30%) - - - - - - HP:0100749 - Chest pain - - - Frequent (79-30%) - - - - - - HP:0100776 - Recurrent pharyngitis - - - Frequent (79-30%) - - - - - - HP:0400008 - Menometrorrhagia - - - Very frequent (99-80%) - - - - - - - y - y - 2016-06-01 00:00:00.0 - 99803 @@ -362157,7 +360627,7 @@ HP:0004332 - Abnormality of lymphocytes + Abnormal lymphocyte morphology Very frequent (99-80%) @@ -400211,7 +398681,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -408235,18 +406705,8 @@ Disorder - - - - HP:0000175 - Cleft palate - - - Very frequent (99-80%) - - - - + + HP:0000316 Hypertelorism @@ -408256,7 +406716,7 @@ - + HP:0000347 Micrognathia @@ -408266,7 +406726,7 @@ - + HP:0000455 Broad nasal tip @@ -408276,7 +406736,7 @@ - + HP:0000582 Upslanted palpebral fissure @@ -408286,7 +406746,27 @@ - + + + HP:0000766 + Abnormality of the sternum + + + Very frequent (99-80%) + + + + + + HP:0001156 + Brachydactyly + + + Very frequent (99-80%) + + + + HP:0002650 Scoliosis @@ -408296,7 +406776,7 @@ - + HP:0002656 Epiphyseal dysplasia @@ -408306,7 +406786,17 @@ - + + + HP:0002663 + Delayed epiphyseal ossification + + + Very frequent (99-80%) + + + + HP:0002857 Genu valgum @@ -408316,17 +406806,17 @@ - - - HP:0003042 - Elbow dislocation + + + HP:0003038 + Fibular hypoplasia Very frequent (99-80%) - + HP:0003071 Flattened epiphysis @@ -408336,7 +406826,27 @@ - + + + HP:0003083 + Dislocated radial head + + + Very frequent (99-80%) + + + + + + HP:0004322 + Short stature + + + Very frequent (99-80%) + + + + HP:0008905 Rhizomelia @@ -408346,22 +406856,62 @@ - - - HP:0011849 - Abnormal bone ossification + + + HP:0010585 + Small epiphyses Very frequent (99-80%) + + + HP:0100168 + Fragmented epiphyses + + + Very frequent (99-80%) + + + + + + HP:0410005 + Cleft hard palate + + + Very frequent (99-80%) + + + + + + HP:0006380 + Knee flexion contracture + + + Frequent (79-30%) + + + + + + HP:0006471 + Fixed elbow flexion + + + Frequent (79-30%) + + + - + 8723087PMID] y y - 2016-06-01 00:00:00.0 + 2021-08-16 00:00:00.0 @@ -408513,28 +407063,28 @@ Disorder - - - - HP:0000256 - Macrocephaly + + + + HP:0000207 + Triangular mouth Very frequent (99-80%) - - - HP:0000272 - Malar flattening + + + HP:0000256 + Macrocephaly Very frequent (99-80%) - + HP:0000316 Hypertelorism @@ -408544,87 +407094,87 @@ - - - HP:0000369 - Low-set ears + + + HP:0000431 + Wide nasal bridge Very frequent (99-80%) - - - HP:0000470 - Short neck + + + HP:0000767 + Pectus excavatum Very frequent (99-80%) - - - HP:0000767 - Pectus excavatum + + + HP:0000924 + Abnormality of the skeletal system Very frequent (99-80%) - - - HP:0001274 - Agenesis of corpus callosum + + + HP:0001249 + Intellectual disability - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0001373 - Joint dislocation + + + HP:0002007 + Frontal bossing Very frequent (99-80%) - - - HP:0001513 - Obesity + + + HP:0002419 + Molar tooth sign on MRI - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0002007 - Frontal bossing + + + HP:0002654 + Multiple epiphyseal dysplasia Very frequent (99-80%) - - - HP:0002758 - Osteoarthritis + + + HP:0002663 + Delayed epiphyseal ossification Very frequent (99-80%) - + HP:0002857 Genu valgum @@ -408634,52 +407184,112 @@ - - - HP:0005930 - Abnormality of epiphysis morphology + + + HP:0003037 + Enlarged joints Very frequent (99-80%) - - - HP:0006101 - Finger syndactyly + + + HP:0030084 + Clinodactyly Very frequent (99-80%) - - - HP:0012444 - Brain atrophy + + + HP:0031092 + Spindle-shaped finger + + + Very frequent (99-80%) + + + + + + HP:0001274 + Agenesis of corpus callosum Frequent (79-30%) - - - HP:0030084 - Clinodactyly + + + HP:0002079 + Hypoplasia of the corpus callosum - - Very frequent (99-80%) + + Frequent (79-30%) + + + + + + HP:0002829 + Arthralgia + + + Frequent (79-30%) + + + + + + HP:0004322 + Short stature + + + Frequent (79-30%) + + + + + + HP:0002059 + Cerebral atrophy + + + Occasional (29-5%) + + + + + + HP:0012725 + Cutaneous syndactyly + + + Occasional (29-5%) + + + + + + HP:0003468 + Abnormal vertebral morphology + + + Very rare (<4-1%) - 11389160[PMID] + 23431744PMID]_22587682[PMID] y y - 2016-06-01 00:00:00.0 + 2021-08-16 00:00:00.0 @@ -409148,235 +407758,6 @@ y 2016-06-01 00:00:00.0 - - - 168549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168549 - Axial spondylometaphyseal dysplasia - - Disease - - - Disorder - - - - - HP:0000316 - Hypertelorism - - - Occasional (29-5%) - - - - - - HP:0000463 - Anteverted nares - - - Occasional (29-5%) - - - - - - HP:0000483 - Astigmatism - - - Occasional (29-5%) - - - - - - HP:0000494 - Downslanted palpebral fissures - - - Occasional (29-5%) - - - - - - HP:0000505 - Visual impairment - - - Very frequent (99-80%) - - - - - - HP:0000506 - Telecanthus - - - Occasional (29-5%) - - - - - - HP:0000510 - Rod-cone dystrophy - - - Very frequent (99-80%) - - - - - - HP:0000520 - Proptosis - - - Occasional (29-5%) - - - - - - HP:0000613 - Photophobia - - - Occasional (29-5%) - - - - - - HP:0000648 - Optic atrophy - - - Frequent (79-30%) - - - - - - HP:0000887 - Cupped ribs - - - Very frequent (99-80%) - - - - - - HP:0000926 - Platyspondyly - - - Very frequent (99-80%) - - - - - - HP:0000944 - Abnormality of the metaphysis - - - Very frequent (99-80%) - - - - - - HP:0002007 - Frontal bossing - - - Frequent (79-30%) - - - - - - HP:0002750 - Delayed skeletal maturation - - - Very frequent (99-80%) - - - - - - HP:0003196 - Short nose - - - Occasional (29-5%) - - - - - - HP:0003411 - Proximal femoral metaphyseal irregularity - - - Frequent (79-30%) - - - - - - HP:0003796 - Irregular iliac crest - - - Frequent (79-30%) - - - - - - HP:0004322 - Short stature - - - Very frequent (99-80%) - - - - - - HP:0005257 - Thoracic hypoplasia - - - Frequent (79-30%) - - - - - - HP:0008905 - Rhizomelia - - - Very frequent (99-80%) - - - - - - - y - y - 2016-06-01 00:00:00.0 - 168593 @@ -419584,7 +417965,7 @@ HP:0004332 - Abnormality of lymphocytes + Abnormal lymphocyte morphology Very frequent (99-80%) @@ -497340,7 +495721,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -498099,7 +496480,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -547252,7 +545633,7 @@ HP:0030882 - Coronary artery dilation + Coronary artery aneurysm Very rare (<4-1%) @@ -564194,7 +562575,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -593823,7 +592204,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -593942,7 +592323,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -611734,7 +610115,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -613893,7 +612274,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -800521,7 +798902,7 @@ HP:0040045 - Abnormality of the hemidiaphragms + Abnormal hemidiaphragm morphology Occasional (29-5%) @@ -832371,7 +830752,7 @@ HP:0003375 - Narrow greater sacrosciatic notches + Narrow greater sciatic notch Occasional (29-5%) @@ -843482,7 +841863,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -845268,7 +843649,7 @@ HP:0003375 - Narrow greater sacrosciatic notches + Narrow greater sciatic notch Frequent (79-30%) @@ -849413,7 +847794,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -875016,7 +873397,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -894283,7 +892664,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -969469,7 +967850,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very rare (<4-1%) @@ -981925,7 +980306,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -1035642,7 +1034023,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very frequent (99-80%) @@ -1077454,7 +1075835,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Frequent (79-30%) @@ -1082285,7 +1080666,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Very rare (<4-1%) @@ -1135673,7 +1134054,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -1137656,7 +1136037,7 @@ HP:0007703 - Abnormality of retinal pigmentation  + Abnormality of retinal pigmentation Occasional (29-5%) @@ -1154260,6 +1152641,693 @@ y 2021-07-16 00:00:00.0 + + + 3124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3124 + Saccharopinuria + + Disease + + + Disorder + + + + + HP:0002161 + Hyperlysinemia + + + Very frequent (99-80%) + + + + + + HP:0011021 + Abnormality of circulating enzyme level + + + Very frequent (99-80%) + + + + + + HP:0001507 + Growth abnormality + + + Frequent (79-30%) + + + + + + HP:0003297 + Hyperlysinuria + + + Frequent (79-30%) + + + + + + HP:0004322 + Short stature + + + Frequent (79-30%) + + + + + + HP:0001250 + Seizures + + + Occasional (29-5%) + + + + + + HP:0001256 + Intellectual disability, mild + + + Occasional (29-5%) + + + + + + HP:0001264 + Spastic diplegia + + + Occasional (29-5%) + + + + + + HP:0001268 + Mental deterioration + + + Occasional (29-5%) + + + + + + HP:0001337 + Tremor + + + Occasional (29-5%) + + + + + + HP:0001987 + Hyperammonemia + + + Occasional (29-5%) + + + + + + HP:0002066 + Gait ataxia + + + Occasional (29-5%) + + + + + + HP:0002936 + Distal sensory impairment + + + Occasional (29-5%) + + + + + + HP:0003131 + Cystinuria + + + Occasional (29-5%) + + + + + + HP:0011966 + Elevated plasma citrulline + + + Occasional (29-5%) + + + + + + HP:0012758 + Neurodevelopmental delay + + + Occasional (29-5%) + + + + + + HP:0032397 + Citrullinuria + + + Occasional (29-5%) + + + + + + HP:0100543 + Cognitive impairment + + + Occasional (29-5%) + + + + + + HP:0500151 + Hypercystinemia + + + Occasional (29-5%) + + + + + + 33996359[PMID]_30573525[PMID]_32768327[PMID] + y + y + 2021-08-17 00:00:00.0 + + + + 941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=941 + D-glyceric aciduria + + Disease + + + Disorder + + + + + HP:0001942 + Metabolic acidosis + + + Very frequent (99-80%) + + + + + + HP:0002448 + Progressive encephalopathy + + + Very frequent (99-80%) + + + + + + HP:0012379 + Abnormal enzyme/coenzyme activity + + + Very frequent (99-80%) + + + + + + HP:0000252 + Microcephaly + + + Frequent (79-30%) + + + + + + HP:0000750 + Delayed speech and language development + + + Frequent (79-30%) + + + + + + HP:0001249 + Intellectual disability + + + Frequent (79-30%) + + + + + + HP:0001250 + Seizures + + + Frequent (79-30%) + + + + + + HP:0001257 + Spasticity + + + Frequent (79-30%) + + + + + + HP:0002154 + Hyperglycinemia + + + Frequent (79-30%) + + + + + + HP:0003108 + Hyperglycinuria + + + Frequent (79-30%) + + + + + + HP:0008947 + Infantile muscular hypotonia + + + Frequent (79-30%) + + + + + + HP:0025356 + Psychomotor retardation + + + Frequent (79-30%) + + + + + + HP:0030781 + Increased circulating free fatty acid level + + + Frequent (79-30%) + + + + + + HP:0500230 + Increased CSF glycine concentration + + + Frequent (79-30%) + + + + + + HP:0000253 + Progressive microcephaly + + + Occasional (29-5%) + + + + + + HP:0000365 + Hearing impairment + + + Occasional (29-5%) + + + + + + HP:0000729 + Autistic behavior + + + Occasional (29-5%) + + + + + + HP:0001336 + Myoclonus + + + Occasional (29-5%) + + + + + + HP:0002072 + Chorea + + + Occasional (29-5%) + + + + + + HP:0002079 + Hypoplasia of the corpus callosum + + + Occasional (29-5%) + + + + + + HP:0007185 + Loss of consciousness + + + Occasional (29-5%) + + + + + + HP:0008288 + Nonketotic hyperglycinemia + + + Occasional (29-5%) + + + + + + HP:0011344 + Severe global developmental delay + + + Occasional (29-5%) + + + + + + HP:0012444 + Brain atrophy + + + Occasional (29-5%) + + + + + + HP:0012736 + Profound global developmental delay + + + Occasional (29-5%) + + + + + + HP:0100704 + Cerebral visual impairment + + + Occasional (29-5%) + + + + + + 26247153[PMID]_30637540[PMID]_28462797[PMID] + y + y + 2021-08-17 00:00:00.0 + + + + 566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566 + Congenital microcoria + + Malformation syndrome + + + Disorder + + + + + HP:0007695 + Abnormal pupillary light reflex + + + Very frequent (99-80%) + + + + + + HP:0007730 + Iris hypopigmentation + + + Very frequent (99-80%) + + + + + + HP:0007990 + Hypoplastic iris stroma + + + Very frequent (99-80%) + + + + + + HP:0012805 + Iris transillumination defect + + + Very frequent (99-80%) + + + + + + HP:0000483 + Astigmatism + + + Frequent (79-30%) + + + + + + HP:0000505 + Visual impairment + + + Frequent (79-30%) + + + + + + HP:0000613 + Photophobia + + + Frequent (79-30%) + + + + + + HP:0007906 + Ocular hypertension + + + Frequent (79-30%) + + + + + + HP:0012047 + Hemeralopia + + + Frequent (79-30%) + + + + + + HP:0012108 + Open angle glaucoma + + + Frequent (79-30%) + + + + + + HP:0031730 + Axial myopia + + + Frequent (79-30%) + + + + + + HP:0100018 + Nuclear cataract + + + Frequent (79-30%) + + + + + + HP:0000485 + Megalocornea + + + Occasional (29-5%) + + + + + + HP:0000519 + Developmental cataract + + + Occasional (29-5%) + + + + + + HP:0000618 + Blindness + + + Occasional (29-5%) + + + + + + HP:0000622 + Blurred vision + + + Occasional (29-5%) + + + + + + HP:0000662 + Nyctalopia + + + Occasional (29-5%) + + + + + + HP:0012040 + Corneal stromal edema + + + Occasional (29-5%) + + + + + + 33922078[PMID]_21677884[PMID] + y + y + 2021-08-17 00:00:00.0 + 2056 @@ -1155916,5 +1154984,9141 @@ y 2021-07-16 00:00:00.0 + + + 93314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93314 + Spondylometaphyseal dysplasia, Kozlowski type + + Disease + + + Disorder + + + + + HP:0000925 + Abnormality of the vertebral column + + + Very frequent (99-80%) + + + + + + HP:0000926 + Platyspondyly + + + Very frequent (99-80%) + + + + + + HP:0001510 + Growth delay + + + Very frequent (99-80%) + + + + + + HP:0002663 + Delayed epiphyseal ossification + + + Very frequent (99-80%) + + + + + + HP:0003521 + Disproportionate short-trunk short stature + + + Very frequent (99-80%) + + + + + + HP:0001156 + Brachydactyly + + + Frequent (79-30%) + + + + + + HP:0001248 + Short tubular bones of the hand + + + Frequent (79-30%) + + + + + + HP:0001288 + Gait disturbance + + + Frequent (79-30%) + + + + + + HP:0001498 + Carpal bone hypoplasia + + + Frequent (79-30%) + + + + + + HP:0001831 + Short toe + + + Frequent (79-30%) + + + + + + HP:0002515 + Waddling gait + + + Frequent (79-30%) + + + + + + HP:0002650 + Scoliosis + + + Frequent (79-30%) + + + + + + HP:0002812 + Coxa vara + + + Frequent (79-30%) + + + + + + HP:0002867 + Abnormality of the ilium + + + Frequent (79-30%) + + + + + + HP:0002869 + Flared iliac wings + + + Frequent (79-30%) + + + + + + HP:0002970 + Genu varum + + + Frequent (79-30%) + + + + + + HP:0003016 + Metaphyseal widening + + + Frequent (79-30%) + + + + + + HP:0003088 + Premature osteoarthritis + + + Frequent (79-30%) + + + + + + HP:0003170 + Abnormality of the acetabulum + + + Frequent (79-30%) + + + + + + HP:0003177 + Squared iliac bones + + + Frequent (79-30%) + + + + + + HP:0003336 + Abnormal enchondral ossification + + + Frequent (79-30%) + + + + + + HP:0003510 + Severe short stature + + + Frequent (79-30%) + + + + + + HP:0005819 + Short middle phalanx of finger + + + Frequent (79-30%) + + + + + + HP:0009882 + Short distal phalanx of finger + + + Frequent (79-30%) + + + + + + HP:0010743 + Short metatarsal + + + Frequent (79-30%) + + + + + + HP:0000768 + Pectus carinatum + + + Occasional (29-5%) + + + + + + HP:0000914 + Shield chest + + + Occasional (29-5%) + + + + + + HP:0002355 + Difficulty walking + + + Occasional (29-5%) + + + + + + HP:0002808 + Kyphosis + + + Occasional (29-5%) + + + + + + HP:0002938 + Lumbar hyperlordosis + + + Occasional (29-5%) + + + + + + HP:0002942 + Thoracic kyphosis + + + Occasional (29-5%) + + + + + + HP:0002986 + Radial bowing + + + Occasional (29-5%) + + + + + + HP:0003059 + Abnormality of the radioulnar joints + + + Occasional (29-5%) + + + + + + HP:0003121 + Limb joint contracture + + + Occasional (29-5%) + + + + + + HP:0003180 + Flat acetabular roof + + + Occasional (29-5%) + + + + + + HP:0003185 + Short greater sciatic notch + + + Occasional (29-5%) + + + + + + HP:0003311 + Hypoplasia of the odontoid process + + + Occasional (29-5%) + + + + + + HP:0003417 + Coronal cleft vertebrae + + + Occasional (29-5%) + + + + + + HP:0003907 + Abnormality of the humeral metaphyses + + + Occasional (29-5%) + + + + + + HP:0004558 + Cervical platyspondyly + + + Occasional (29-5%) + + + + + + HP:0008422 + Vertebral wedging + + + Occasional (29-5%) + + + + + + HP:0010228 + Absent epiphyses of the phalanges of the hand + + + Occasional (29-5%) + + + + + + HP:0030289 + Flattened femoral epiphysis + + + Occasional (29-5%) + + + + + + HP:0030320 + Increased intervertebral space + + + Occasional (29-5%) + + + + + + HP:0100864 + Short femoral neck + + + Occasional (29-5%) + + + + + + 28687525 [PMID]_24830047[PMID]_33774370[PMID] + y + y + 2021-08-20 00:00:00.0 + + + + 85167 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85167 + Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome + + Disease + + + Disorder + + + + + HP:0000505 + Visual impairment + + + Very frequent (99-80%) + + + + + + HP:0000548 + Cone/cone-rod dystrophy + + + Very frequent (99-80%) + + + + + + HP:0000926 + Platyspondyly + + + Very frequent (99-80%) + + + + + + HP:0001156 + Brachydactyly + + + Very frequent (99-80%) + + + + + + HP:0002812 + Coxa vara + + + Very frequent (99-80%) + + + + + + HP:0002979 + Bowing of the legs + + + Very frequent (99-80%) + + + + + + HP:0003015 + Flared metaphysis + + + Very frequent (99-80%) + + + + + + HP:0003025 + Metaphyseal irregularity + + + Very frequent (99-80%) + + + + + + HP:0003026 + Short long bone + + + Very frequent (99-80%) + + + + + + HP:0003300 + Ovoid vertebral bodies + + + Very frequent (99-80%) + + + + + + HP:0003510 + Severe short stature + + + Very frequent (99-80%) + + + + + + HP:0005054 + Metaphyseal spurs + + + Very frequent (99-80%) + + + + + + HP:0005930 + Abnormality of epiphysis morphology + + + Very frequent (99-80%) + + + + + + HP:0006487 + Bowing of the long bones + + + Very frequent (99-80%) + + + + + + HP:0007703 + Abnormality of retinal pigmentation + + + Very frequent (99-80%) + + + + + + HP:0008905 + Rhizomelia + + + Very frequent (99-80%) + + + + + + HP:0009803 + Short phalanx of finger + + + Very frequent (99-80%) + + + + + + HP:0010049 + Short metacarpal + + + Very frequent (99-80%) + + + + + + HP:0010583 + Ivory epiphyses + + + Very frequent (99-80%) + + + + + + HP:0030329 + Retinal thinning + + + Very frequent (99-80%) + + + + + + HP:0000539 + Abnormality of refraction + + + Frequent (79-30%) + + + + + + HP:0000887 + Cupped ribs + + + Frequent (79-30%) + + + + + + HP:0000946 + Hypoplastic ilia + + + Frequent (79-30%) + + + + + + HP:0003375 + Narrow greater sciatic notch + + + Frequent (79-30%) + + + + + + HP:0031171 + Femoral spur + + + Frequent (79-30%) + + + + + + HP:0000486 + Strabismus + + + Occasional (29-5%) + + + + + + HP:0000568 + Microphthalmia + + + Occasional (29-5%) + + + + + + HP:0000589 + Coloboma + + + Occasional (29-5%) + + + + + + HP:0000602 + Ophthalmoplegia + + + Occasional (29-5%) + + + + + + HP:0000639 + Nystagmus + + + Occasional (29-5%) + + + + + + HP:0001105 + Retinal atrophy + + + Occasional (29-5%) + + + + + + HP:0001132 + Lens subluxation + + + Occasional (29-5%) + + + + + + HP:0002650 + Scoliosis + + + Occasional (29-5%) + + + + + + HP:0007401 + Macular atrophy + + + Occasional (29-5%) + + + + + + HP:0007688 + Undetectable light- and dark-adapted electroretinogram + + + Occasional (29-5%) + + + + + + HP:0007957 + Corneal opacity + + + Occasional (29-5%) + + + + + + HP:0009918 + Ectopia pupillae + + + Occasional (29-5%) + + + + + + HP:0012153 + Hypotriglyceridemia + + + Occasional (29-5%) + + + + + + HP:0001249 + Intellectual disability + + + Excluded (0%) + + + + + + 24387991[PMID]_30559292[PMID]_24476460[PMID] + y + y + 2021-08-20 00:00:00.0 + + + + 3092 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3092 + Fixed subaortic stenosis + + Morphological anomaly + + + Disorder + + + + + HP:0001627 + Abnormal heart morphology + + + Frequent (79-30%) + + + + + + HP:0001629 + Ventricular septal defect + + + Frequent (79-30%) + + + + + + HP:0001635 + Congestive heart failure + + + Frequent (79-30%) + + + + + + HP:0001643 + Patent ductus arteriosus + + + Frequent (79-30%) + + + + + + HP:0001659 + Aortic regurgitation + + + Frequent (79-30%) + + + + + + HP:0001712 + Left ventricular hypertrophy + + + Frequent (79-30%) + + + + + + HP:0002094 + Dyspnea + + + Frequent (79-30%) + + + + + + HP:0002875 + Exertional dyspnea + + + Frequent (79-30%) + + + + + + HP:0031664 + Systolic heart murmur + + + Frequent (79-30%) + + + + + + HP:0031668 + Diastolic heart murmur + + + Frequent (79-30%) + + + + + + HP:0032092 + Left ventricular outflow tract obstruction + + + Frequent (79-30%) + + + + + + HP:0001279 + Syncope + + + Occasional (29-5%) + + + + + + HP:0001640 + Cardiomegaly + + + Occasional (29-5%) + + + + + + HP:0001642 + Pulmonic stenosis + + + Occasional (29-5%) + + + + + + HP:0001647 + Bicuspid aortic valve + + + Occasional (29-5%) + + + + + + HP:0001653 + Mitral regurgitation + + + Occasional (29-5%) + + + + + + HP:0001671 + Abnormal cardiac septum morphology + + + Occasional (29-5%) + + + + + + HP:0001680 + Coarctation of aorta + + + Occasional (29-5%) + + + + + + HP:0001681 + Angina pectoris + + + Occasional (29-5%) 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outflow tract obstruction + + + Very frequent (99-80%) + + + + + + HP:0032554 + Absent pulse + + + Very frequent (99-80%) + + + + + + HP:0000822 + Hypertension + + + Frequent (79-30%) + + + + + + HP:0000961 + Cyanosis + + + Frequent (79-30%) + + + + + + HP:0001627 + Abnormal heart morphology + + + Frequent (79-30%) + + + + + + HP:0001629 + Ventricular septal defect + + + Frequent (79-30%) + + + + + + HP:0001635 + Congestive heart failure + + + Frequent (79-30%) + + + + + + HP:0001712 + Left ventricular hypertrophy + + + Frequent (79-30%) + + + + + + HP:0002098 + Respiratory distress + + + Frequent (79-30%) + + + + + + HP:0002789 + Tachypnea + + + Frequent (79-30%) + + + + + + HP:0008872 + Feeding difficulties in infancy + + + Frequent (79-30%) + + + + + + HP:0010741 + Pedal edema + + + Frequent (79-30%) + + + + + + HP:0020142 + Blood pressure substantially higher in arms than legs + + + Frequent (79-30%) + + + + + + HP:0030973 + Postexertional malaise + + + Frequent (79-30%) + + + + + 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+ + + + + + HP:0001719 + Double outlet right ventricle + + + Very rare (<4-1%) + + + + + + HP:0001750 + Single ventricle + + + Very rare (<4-1%) + + + + + + HP:0010883 + Aortic valve atresia + + + Very rare (<4-1%) + + + + + + 30422497[PMID]_29742969[PMID]_24457106[PMID]_27777532[PMID] + y + y + 2021-08-19 00:00:00.0 + + + + 439 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439 + Isolated right ventricular hypoplasia + + Morphological anomaly + + + Disorder + + + + + HP:0005180 + Tricuspid regurgitation + + + Frequent (79-30%) + + + + + + HP:0012378 + Fatigue + + + Frequent (79-30%) + + + + + + HP:0030718 + Right atrial enlargement + + + Frequent (79-30%) + + + + + + HP:0031664 + Systolic heart murmur + + + Frequent (79-30%) + + + + + + HP:0001635 + Congestive heart failure + + + Occasional (29-5%) + + + + + + HP:0001640 + Cardiomegaly + + + Occasional (29-5%) + + + + + + HP:0005150 + Abnormal atrioventricular conduction + + + Occasional (29-5%) + + + + + + HP:0010741 + Pedal edema + + + Occasional (29-5%) + + + + + + HP:0000961 + Cyanosis + + + Very frequent (99-80%) + + + + + + HP:0001694 + Right-to-left shunt + + + Very frequent (99-80%) + + + + + + HP:0002094 + Dyspnea + + + Very frequent (99-80%) + + + + + + HP:0012418 + Hypoxemia + + + Very frequent (99-80%) + + + + + + HP:0001217 + Clubbing + + + Frequent (79-30%) + + + + + + HP:0001631 + Atrial septal defect + + + Frequent (79-30%) + + + + + + HP:0001655 + Patent foramen ovale + + + Frequent (79-30%) + + + + + + HP:0001708 + Right ventricular failure + + + Frequent (79-30%) + + + + + + HP:0011623 + Muscular ventricular septal defect + + + Occasional (29-5%) + + + + + + HP:0011712 + Right bundle branch block + + + Occasional (29-5%) + + + + + + HP:0012383 + Bidirectional shunt + + + Occasional (29-5%) + + + + + + 30805240[PMID]_33123333[PMID] + y + y + 2021-08-19 00:00:00.0 + + + + 2041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2041 + Coronary arterial fistula + + Morphological anomaly + + + Disorder + + + + + HP:0001635 + Congestive heart failure + + + Frequent (79-30%) + + + + + + HP:0001640 + Cardiomegaly + + + Frequent (79-30%) + + + + + + HP:0001649 + Tachycardia + + + Frequent (79-30%) + + + + + + HP:0002875 + Exertional dyspnea + + + Frequent (79-30%) + + + + + + HP:0003115 + Abnormal EKG + + + Frequent (79-30%) + + + + + + HP:0005162 + Left ventricular dysfunction + + + Frequent (79-30%) + + + + + + HP:0031664 + Systolic heart murmur + + + Frequent (79-30%) + + + + + + HP:0031670 + Continuous heart murmur + + + Frequent (79-30%) + + + + + + HP:0001279 + Syncope + + + Occasional (29-5%) + + + + + + HP:0001627 + Abnormal heart morphology + + + Occasional (29-5%) + + + + + + HP:0001631 + Atrial septal defect + + + Occasional (29-5%) + + + + + + HP:0001643 + Patent ductus arteriosus + + + Occasional (29-5%) + + + + + + HP:0001647 + Bicuspid aortic valve + + + Occasional (29-5%) + + + + + + HP:0001650 + Aortic valve stenosis + + + Occasional (29-5%) + + + + + + HP:0001655 + Patent foramen ovale + + + Occasional (29-5%) + + + + + + HP:0001681 + Angina pectoris + + + Occasional (29-5%) + + + + + + HP:0001962 + Palpitations + + + Occasional (29-5%) + + + + + + HP:0002092 + Pulmonary arterial hypertension + + + Occasional (29-5%) + + + + + + HP:0002617 + Dilatation + + + Occasional (29-5%) + + + + + + HP:0002789 + Tachypnea + + + Occasional (29-5%) + + + + + + HP:0005133 + Right ventricular dilatation + + + Occasional (29-5%) + + + + + + HP:0006689 + Bacterial endocarditis + + + Occasional (29-5%) + + + + + + HP:0010741 + Pedal edema + + + Occasional (29-5%) + + + + + + HP:0011675 + Arrhythmia + + + Occasional (29-5%) + + + + + + HP:0012764 + Orthopnea + + + Occasional (29-5%) + + + + + + HP:0030848 + Elevated jugular venous pressure + + + Occasional (29-5%) + + + + + + HP:0030882 + Coronary artery aneurysm + + + Occasional (29-5%) + + + + + + 28740588[PMID]_30560560[PMID]_26381209[PMID]_30230248[PMID] + y + y + 2021-08-18 00:00:00.0 + + + + 1686 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1686 + Cardiac diverticulum + + Morphological anomaly + + + Disorder + + + + + HP:0001647 + Bicuspid aortic valve + + + Very rare (<4-1%) + + + + + + HP:0001650 + Aortic valve stenosis + + + Very rare (<4-1%) + + + + + + HP:0001655 + Patent foramen ovale + + + Very rare (<4-1%) + + + + + + HP:0001663 + Ventricular fibrillation + + + Very rare (<4-1%) + + + + + + HP:0001718 + Mitral stenosis + + + Very rare (<4-1%) + + + + + + HP:0001907 + Thromboembolism + + + Very rare (<4-1%) + + + + + + HP:0004756 + Ventricular tachycardia + + + Very rare (<4-1%) + + + + + + HP:0005182 + Bicuspid pulmonary valve + + + Very rare (<4-1%) + + + + + + HP:0010446 + Tricuspid stenosis + + + Very rare (<4-1%) + + + + + + HP:0011636 + Abnormal coronary artery origin + + + Very rare (<4-1%) + + + + + + HP:0011662 + Tricuspid atresia + + + Very rare (<4-1%) + + + + + + HP:0100584 + Endocarditis + + + Very rare (<4-1%) + + + + + + HP:0003115 + Abnormal EKG + + + Frequent (79-30%) + + + + + + HP:0000775 + Abnormality of the diaphragm + + + Occasional (29-5%) + + + + + + HP:0001279 + Syncope + + + Occasional (29-5%) + + + + + + HP:0001537 + Umbilical hernia + + + Occasional (29-5%) + + + + + + HP:0001539 + Omphalocele + + + Occasional (29-5%) + + + + + + HP:0001540 + Diastasis recti + + + Occasional (29-5%) + + + + + + HP:0001627 + Abnormal heart morphology + + + Occasional (29-5%) + + + + + + HP:0001629 + Ventricular septal defect + + + Occasional (29-5%) + + + + + + HP:0001631 + Atrial septal defect + + + Occasional (29-5%) + + + + + + HP:0001635 + Congestive heart failure + + + Occasional (29-5%) + + + + + + HP:0001651 + Dextrocardia + + + Occasional (29-5%) + + + + + + HP:0001669 + Transposition of the great arteries + + + Occasional (29-5%) + + + + + + HP:0001679 + Abnormal aortic morphology + + + Occasional (29-5%) + + + + + + HP:0001680 + Coarctation of aorta + + + Occasional (29-5%) + + + + + + HP:0001681 + Angina pectoris + + + Occasional (29-5%) + + + + + + HP:0001712 + Left ventricular hypertrophy + + + Occasional (29-5%) + + + + + + HP:0001962 + Palpitations + + + Occasional (29-5%) + + + + + + HP:0004415 + Pulmonary artery stenosis + + + Occasional (29-5%) + + + + + + HP:0004971 + Pulmonary artery hypoplasia + + + Occasional (29-5%) + + + + + + HP:0005301 + Persistent left superior vena cava + + + Occasional (29-5%) + + + + + + HP:0006682 + Ventricular extrasystoles + + + Occasional (29-5%) + + + + + + HP:0006714 + Aplasia/Hypoplasia of the sternum + + + Occasional (29-5%) + + + + + + HP:0010773 + Partial anomalous pulmonary venous return + + + Occasional (29-5%) + + + + + + HP:0010866 + Abdominal wall defect + + + Occasional (29-5%) + + + + + + HP:0011628 + Congenital defect of the pericardium + + + Occasional (29-5%) + + + + + + HP:0011675 + Arrhythmia + + + Occasional (29-5%) + + + + + + HP:0100749 + Chest pain + + + Occasional (29-5%) + + + + + + HP:0001634 + Mitral valve prolapse + + + Very rare (<4-1%) + + + + + + HP:0001636 + Tetralogy of Fallot + + + Very rare (<4-1%) + + + + + + HP:0001643 + Patent ductus arteriosus + + + Very rare (<4-1%) + + + + + + 32065468[PMID]_25782048[PMID] + y + y + 2021-08-18 00:00:00.0 + + + + 980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=980 + Absence of the pulmonary artery + + Morphological anomaly + + + Disorder + + + + + HP:0001627 + Abnormal heart morphology + + + Frequent (79-30%) + + + + + + HP:0002092 + Pulmonary arterial hypertension + + + Frequent (79-30%) + + + + + + HP:0002205 + Recurrent respiratory infections + + + Frequent (79-30%) + + + + + + HP:0003115 + Abnormal EKG + + + Frequent (79-30%) + + + + + + HP:0003546 + Exercise intolerance + + + Frequent (79-30%) + + + + + + HP:0006532 + Recurrent pneumonia + + + Frequent (79-30%) + + + + + + HP:0012417 + Hypocapnia + + + Frequent (79-30%) + + + + + + HP:0031983 + Abnormal pulmonary thoracic imaging finding + + + Frequent (79-30%) 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+ + Occasional (29-5%) + + + + + + HP:0002110 + Bronchiectasis + + + Occasional (29-5%) + + + + + + HP:0004749 + Atrial flutter + + + Occasional (29-5%) + + + + + + HP:0005110 + Atrial fibrillation + + + Occasional (29-5%) + + + + + + HP:0006704 + Abnormal coronary artery morphology + + + Occasional (29-5%) + + + + + + HP:0010741 + Pedal edema + + + Occasional (29-5%) + + + + + + HP:0012020 + Right aortic arch + + + Occasional (29-5%) + + + + + + HP:0012664 + Reduced ejection fraction + + + Occasional (29-5%) + + + + + + HP:0012764 + Orthopnea + + + Occasional (29-5%) + + + + + + HP:0025576 + Abnormal inferior vena cava morphology + + + Occasional (29-5%) + + + + + + HP:0031246 + Nonproductive cough + + + Occasional (29-5%) + + + + + + HP:0031664 + Systolic heart murmur + + + Occasional (29-5%) + + + + + + HP:0040045 + Abnormal hemidiaphragm morphology + + + Occasional (29-5%) + + + + + + HP:0100598 + Pulmonary edema + + + Occasional (29-5%) + + + + + + HP:0100749 + Chest pain + + + Occasional (29-5%) + + + + + + 23938302[PMID]_31228825[PMID]_29463283[PMID] + y + y + 2021-08-18 00:00:00.0 + + + + 2133 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2133 + Hemoglobin E disease + + Disease + + + Disorder + + + + + HP:0004840 + Hypochromic microcytic anemia + + + Very frequent (99-80%) + + + + + + HP:0010972 + Anemia of inadequate production + + + Very frequent (99-80%) + + + + + + HP:0011902 + Abnormal hemoglobin + + + Very frequent (99-80%) + + + + + + HP:0020059 + Increased red blood cell count + + + Very frequent (99-80%) + + + + + + HP:0025066 + Decreased mean corpuscular volume + + + Very frequent (99-80%) + + + + + + HP:0032231 + Hypochromia + + + Very frequent (99-80%) + + + + + + HP:0011905 + Reduced hemoglobin A + + + Frequent (79-30%) + + + + + + HP:0001511 + Intrauterine growth retardation + + + Occasional (29-5%) + + + + + + HP:0001622 + Premature birth + + + Occasional (29-5%) + + + + + + HP:0001744 + Splenomegaly + + + Occasional (29-5%) + + + + + + HP:0004817 + Drug-sensitive hemolytic anemia + + + Occasional (29-5%) + + + + + + HP:0005546 + Increased red cell osmotic resistance + + + Occasional (29-5%) + + + + + + HP:0005268 + Spontaneous abortion + + + Very rare (<4-1%) + + + + + + 27456306[PMID]_17654063[PMID]_21886666[PMID] + y + y + 2021-08-25 00:00:00.0 + + + + 1320 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1320 + Idiopathic camptocormia + + Morphological anomaly + + + Disorder + + + + + HP:0000707 + Abnormality of the nervous system + + + Frequent (79-30%) + + + + + + HP:0001332 + Dystonia + + + Frequent (79-30%) + + + + + + HP:0002059 + Cerebral atrophy + + + Frequent (79-30%) + + + + + + HP:0002500 + Abnormality of the cerebral white matter + + + Frequent (79-30%) + + + + + + HP:0002758 + Osteoarthritis + + + Frequent (79-30%) + + + + + + HP:0003445 + EMG: neuropathic changes + + + Frequent (79-30%) + + + + + + HP:0003458 + EMG: myopathic abnormalities + + + Frequent (79-30%) + + + + + + HP:0005108 + Abnormality of the intervertebral disk + + + Frequent (79-30%) + + + + + + HP:0100285 + EMG: impaired neuromuscular transmission + + + Frequent (79-30%) + + + + + + HP:0000234 + Abnormality of the head + + + Occasional (29-5%) + + + + + + HP:0001300 + Parkinsonism + + + Occasional (29-5%) + + + + + + HP:0003236 + Elevated serum creatine kinase + + + Occasional (29-5%) + + + + + + HP:0003444 + EMG: chronic denervation signs + + + Occasional (29-5%) + + + + + + HP:0006959 + Proximal spinal muscular atrophy + + + Occasional (29-5%) + + + + + + HP:0007354 + Amyotrophic lateral sclerosis + + + Occasional (29-5%) + + + + + + HP:0012647 + Abnormal inflammatory response + + + Occasional (29-5%) + + + + + + HP:0100022 + Abnormality of movement + + + Occasional (29-5%) + + + + + + HP:0002134 + Abnormality of the basal ganglia + + + Very rare (<4-1%) + + + + + + HP:0002145 + Frontotemporal dementia + + + Very rare (<4-1%) + + + + + + HP:0002486 + Myotonia + + + Very rare (<4-1%) + + + + + + HP:0002511 + Alzheimer disease + + + Very rare (<4-1%) + + + + + + HP:0002715 + Abnormality of the immune system + + + Very rare (<4-1%) + + + + + + HP:0003396 + Syringomyelia + + + Very rare (<4-1%) + + + + + + HP:0003398 + Abnormal synaptic transmission at the neuromuscular junction + + + Very rare (<4-1%) + + + + + + HP:0003416 + Spinal canal stenosis + + + Very rare (<4-1%) + + + + + + HP:0003737 + Mitochondrial myopathy + + + Very rare (<4-1%) + + + + + + HP:0007361 + Abnormality of the pons + + + Very rare (<4-1%) + + + + + + HP:0012486 + Myelitis + + + Very rare (<4-1%) + + + + + + HP:0012548 + Fatty replacement of skeletal muscle + + + Very rare (<4-1%) + + + + + + HP:0030113 + Abnormal muscle fiber dysferlin + + + Very rare (<4-1%) + + + + + + HP:0030197 + Fatigable weakness of skeletal muscles + + + Very rare (<4-1%) + + + + + + HP:0100315 + Lewy bodies + + + Very rare (<4-1%) + + + + + + HP:0100614 + Myositis + + + Very rare (<4-1%) + + + + + + 30105164[PMID]_30783552[PMID] + y + y + 2021-08-25 00:00:00.0 + + + + 656 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656 + Genetic steroid-resistant nephrotic syndrome + + Disease + + + Disorder + + + + + HP:0000093 + Proteinuria + + + Obligate (100%) + + + + + + HP:0000969 + Edema + + + Very frequent (99-80%) + + + + + + HP:0000097 + Focal segmental glomerulosclerosis + + + Frequent (79-30%) + + + + + + HP:0003774 + Stage 5 chronic kidney disease + + + Frequent (79-30%) + + + + + + HP:0012622 + Chronic kidney disease + + + Frequent (79-30%) + + + + + + HP:0100539 + Periorbital edema + + + Frequent (79-30%) + + + + + + HP:0000737 + Irritability + + + Occasional (29-5%) + + + + + + HP:0001945 + Fever + + + Occasional (29-5%) + + + + + + HP:0001967 + Diffuse mesangial sclerosis + + + Occasional (29-5%) + + + + + + HP:0002027 + Abdominal pain + + + Occasional (29-5%) + + + + + + HP:0002315 + Headache + + + Occasional (29-5%) + + + + + + HP:0003073 + Hypoalbuminemia + + + Occasional (29-5%) + + + + + + HP:0011947 + Respiratory tract infection + + + Occasional (29-5%) + + + + + + HP:0012579 + Minimal change glomerulonephritis + + + Occasional (29-5%) + + + + + + HP:0031504 + Foamy urine + + + Occasional (29-5%) + + + + + + HP:0000707 + Abnormality of the nervous system + + + Very rare (<4-1%) + + + + + + HP:0002586 + Peritonitis + + + Very rare (<4-1%) + + + + + + 28566477[PMID]_29910038[PMID]_32155690[PMID] + y + y + 2021-08-24 00:00:00.0 + + + + 860 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=860 + Congenitally uncorrected transposition of the great arteries + + Morphological anomaly + + + Disorder + + + + + HP:0000961 + Cyanosis + + + Very frequent (99-80%) + + + + + + HP:0001649 + Tachycardia + + + Very frequent (99-80%) + + + + + + HP:0001693 + Cardiac shunt + + + Very frequent (99-80%) + + + + + + HP:0011028 + Abnormality of blood circulation + + + Very frequent (99-80%) + + + + + + HP:0011563 + Abnormal ventriculoarterial connection + + + Very frequent (99-80%) + + + + + + HP:0012418 + Hypoxemia + + + Very frequent (99-80%) + + + + + + HP:0030148 + Heart murmur + + + Very frequent (99-80%) + + + + + + HP:0000975 + Hyperhidrosis + + + Frequent (79-30%) + + + + + + HP:0001508 + Failure to thrive + + + Frequent (79-30%) + + + + + + HP:0001629 + Ventricular septal defect + + + Frequent (79-30%) + + + + + + HP:0001631 + Atrial septal defect + + + Frequent (79-30%) + + + + + + HP:0001633 + Abnormal mitral valve morphology + + + Frequent (79-30%) + + + + + + HP:0001635 + Congestive heart failure + + + Frequent (79-30%) + + + + + + HP:0001640 + Cardiomegaly + + + Frequent (79-30%) + + + + + + HP:0001641 + Abnormal pulmonary valve morphology + + + Frequent (79-30%) + + + + + + HP:0001643 + Patent ductus arteriosus + + + Frequent (79-30%) + + + + + + HP:0001667 + Right ventricular hypertrophy + + + Frequent (79-30%) + + + + + + HP:0002789 + Tachypnea + + + Frequent (79-30%) + + + + + + HP:0006704 + Abnormal coronary artery morphology + + + Frequent (79-30%) + + + + + + HP:0010772 + Anomalous pulmonary venous return + + + Frequent (79-30%) + + + + + + HP:0012303 + Abnormal aortic arch morphology + + + Frequent (79-30%) + + + + + + HP:0025074 + Abnormal QRS complex + + + Frequent (79-30%) + + + + + + HP:0031348 + Dextrotransposition of the great arteries + + + Frequent (79-30%) + + + + + + HP:0031349 + Levotransposition of the great arteries + + + Frequent (79-30%) + + + + + + HP:0032092 + Left ventricular outflow tract obstruction + + + Frequent (79-30%) + + + + + + HP:0200128 + Biventricular hypertrophy + + + Frequent (79-30%) + + + + + + HP:0001518 + Small for gestational age + + + Occasional (29-5%) + + + + + + HP:0001680 + Coarctation of aorta + + + Occasional (29-5%) + + + + + + HP:0002240 + Hepatomegaly + + + Occasional (29-5%) + + + + + + HP:0011611 + Interrupted aortic arch + + + Occasional (29-5%) + + + + + + HP:0012304 + Hypoplastic aortic arch + + + Occasional (29-5%) + + + + + 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the lower limb + + + Occasional (29-5%) + + + + + + HP:0011354 + Generalized abnormality of skin + + + Occasional (29-5%) + + + + + + 21929548[PMID]_33491095[PMID]_12932230[PMID] + y + y + 2021-08-23 00:00:00.0 + + + + 168549 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168549 + Axial spondylometaphyseal dysplasia + + Disease + + + Disorder + + + + + HP:0000510 + Rod-cone dystrophy + + + Very frequent (99-80%) + + + + + + HP:0000556 + Retinal dystrophy + + + Very frequent (99-80%) + + + + + + HP:0000773 + Short ribs + + + Very frequent (99-80%) + + + + + + HP:0000774 + Narrow chest + + + Very frequent (99-80%) + + + + + + HP:0000886 + Deformed rib cage + + + Very frequent (99-80%) + + + + + + HP:0000887 + Cupped ribs + + + Very frequent (99-80%) + + + + + + HP:0001510 + Growth delay + + + Very frequent (99-80%) + + + + + + HP:0002867 + Abnormality of the ilium + + + Very frequent (99-80%) + + + + + + HP:0004322 + Short stature + + + Very frequent (99-80%) + + + + + + HP:0005257 + Thoracic hypoplasia + + + Very frequent (99-80%) + + + + + + HP:0006431 + Proximal femoral metaphyseal abnormality + + + Very frequent (99-80%) + + + + + + HP:0007663 + Reduced visual acuity + + + Very frequent (99-80%) + + + + + + HP:0008786 + Iliac crest serration + + + Very frequent (99-80%) + + + + + + HP:0009824 + Upper limb undergrowth + + + Very frequent (99-80%) + + + + + + HP:0045027 + Abnormality of the thoracic cavity + + + Very frequent (99-80%) + + + + + + HP:0000926 + Platyspondyly + + + Frequent (79-30%) + + + + + + HP:0002643 + Neonatal respiratory distress + + + Frequent (79-30%) + + + + + + HP:0002812 + Coxa vara + + + Frequent (79-30%) + + + + + + HP:0003411 + Proximal femoral metaphyseal irregularity + + + Frequent (79-30%) + + + + + + HP:0005916 + Abnormal metacarpal morphology + + + Frequent (79-30%) + + + + + + HP:0006589 + Flaring of lower rib cage + + + Frequent (79-30%) + + + + + + HP:0006603 + Flared, irregular rib ends + + + Frequent (79-30%) + + + + + + HP:0006712 + Aplasia/Hypoplasia of the ribs + + + Frequent (79-30%) + + + + + + HP:0008515 + Aplasia/Hypoplasia of the vertebrae + + + Frequent (79-30%) + + + + + + HP:0008812 + Flattened femoral head + + + Frequent (79-30%) + + + + + + HP:0011947 + Respiratory tract infection + + + Frequent (79-30%) + + + + + + HP:0012774 + Increased upper to lower segment ratio + + + Frequent (79-30%) + + + + + + HP:0000508 + Ptosis + + + Occasional (29-5%) + + + + + + HP:0000518 + Cataract + + + Occasional (29-5%) + + + + + + HP:0000613 + Photophobia + + + Occasional (29-5%) + + + + + + HP:0000639 + Nystagmus + + + Occasional (29-5%) + + + + + + HP:0000646 + Amblyopia + + + Occasional (29-5%) + + + + + + HP:0000648 + Optic atrophy + + + Occasional (29-5%) + + + + + + HP:0000938 + Osteopenia + + + Occasional (29-5%) + + + + + + HP:0001216 + Delayed ossification of carpal bones + + + Occasional (29-5%) + + + + + + HP:0001530 + Mild postnatal growth retardation + + + Occasional (29-5%) + + + + + + HP:0002650 + Scoliosis + + + Occasional (29-5%) + + + + + + HP:0002866 + Hypoplastic iliac wing + + + Occasional (29-5%) + + + + + + HP:0002943 + Thoracic scoliosis + + + Occasional (29-5%) + + + + + + HP:0003086 + Acromesomelia + + + Occasional (29-5%) + + + + + + HP:0003180 + Flat acetabular roof + + + Occasional (29-5%) + + + + + + HP:0003375 + Narrow greater sciatic notch + + + Occasional (29-5%) + + + + + + HP:0003521 + Disproportionate short-trunk short stature + + + Occasional (29-5%) + + + + + + HP:0007641 + Dyschromatopsia + + + Occasional (29-5%) + + + + + + HP:0007769 + Peripheral retinal degeneration + + + Occasional (29-5%) + + + + + + HP:0008444 + Posterior wedging of vertebral bodies + + + Occasional (29-5%) + + + + + + HP:0100864 + Short femoral neck + + + Occasional (29-5%) + + + + + + 23371363[PMID]_26974433[PMID] + y + y + 2021-08-23 00:00:00.0 + + + + 93316 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93316 + Spondylometaphyseal dysplasia, Schmidt type + + Disease + + + Disorder + + + + + HP:0000925 + Abnormality of the vertebral column + + + Very frequent (99-80%) + + + + + + HP:0000944 + Abnormality of the metaphysis + + + Very frequent (99-80%) + + + + + + HP:0100255 + Metaphyseal dysplasia + + + Very frequent (99-80%) + + + + + + HP:0000926 + Platyspondyly + + + Frequent (79-30%) + + + + + + HP:0001385 + Hip dysplasia + + + Frequent (79-30%) + + + + + + HP:0002650 + Scoliosis + + + Frequent (79-30%) + + + + + + HP:0002812 + Coxa vara + + + Frequent (79-30%) + + + + + + HP:0002815 + Abnormality of the knee + + + Frequent (79-30%) + + + + + + HP:0002857 + Genu valgum + + + Frequent (79-30%) + + + + + + HP:0002867 + Abnormality of the ilium + + + Frequent (79-30%) + + + + + + HP:0003375 + Narrow greater sciatic notch + + + Frequent (79-30%) + + + + + + HP:0003510 + Severe short stature + + + Frequent (79-30%) + + + + + + HP:0003521 + Disproportionate short-trunk short stature + + + Frequent (79-30%) + + + + + + HP:0010574 + Abnormality of the epiphysis of the femoral head + + + Frequent (79-30%) + + + + + + HP:0100866 + Short iliac bones + + + Frequent (79-30%) + + + + + + HP:0000185 + Cleft soft palate + + + Occasional (29-5%) + + + + + + HP:0000347 + Micrognathia + + + Occasional (29-5%) + + + + + + HP:0000402 + Stenosis of the external auditory canal + + + Occasional (29-5%) + + + + + + HP:0000545 + Myopia + + + Occasional (29-5%) + + + + + + HP:0001561 + Polyhydramnios + + + Occasional (29-5%) + + + + + + HP:0002020 + Gastroesophageal reflux + + + Occasional (29-5%) + + + + + + HP:0002033 + Poor suck + + + Occasional (29-5%) + + + + + + HP:0002751 + Kyphoscoliosis + + + Occasional (29-5%) + + + + + + HP:0003019 + Abnormality of the wrist + + + Occasional (29-5%) + + + + + + HP:0003026 + Short long bone + + + Occasional (29-5%) + + + + + + HP:0003796 + Irregular iliac crest + + + Occasional (29-5%) + + + + + + HP:0008833 + Irregular acetabular roof + + + Occasional (29-5%) + + + + + + HP:0011470 + Nasogastric tube feeding in infancy + + + Occasional (29-5%) + + + + + + HP:0011471 + Gastrostomy tube feeding in infancy + + + Occasional (29-5%) + + + + + + HP:0100864 + Short femoral neck + + + Occasional (29-5%) + + + + + + 3368247[PMID]_23653587[PMID] + y + y + 2021-08-23 00:00:00.0 + + + + 93315 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93315 + Spondylometaphyseal dysplasia, 'corner fracture' type + + Disease + + + Disorder + + + + + HP:0002812 + Coxa vara + + + Very frequent (99-80%) + + + + + + HP:0003025 + Metaphyseal irregularity + + + Very frequent (99-80%) + + + + + + HP:0003300 + Ovoid vertebral bodies + + + Very frequent (99-80%) + + + + + + HP:0003468 + Abnormal vertebral morphology + + + Very frequent (99-80%) + + + + + + HP:0003908 + Corner fracture of metaphysis + + + Very frequent (99-80%) + + + + + + HP:0004322 + Short stature + + + Very frequent (99-80%) + + + + + + HP:0000768 + Pectus carinatum + + + Frequent (79-30%) + + + + + + HP:0001376 + Limitation of joint mobility + + + Frequent (79-30%) + + + + + + HP:0002650 + Scoliosis + + + Frequent (79-30%) + + + + + + HP:0002857 + Genu valgum + + + Frequent (79-30%) + + + + + + HP:0002970 + Genu varum + + + Frequent (79-30%) + + + + + + HP:0003026 + Short long bone + + + Frequent (79-30%) + + + + + + HP:0003521 + Disproportionate short-trunk short stature + + + Frequent (79-30%) + + + + + + HP:0006385 + Short lower limbs + + + Frequent (79-30%) + + + + + + HP:0009763 + Limb pain + + + Frequent (79-30%) + + + + + + HP:0009824 + Upper limb undergrowth + + + Frequent (79-30%) + + + + + + HP:0011849 + Abnormal bone ossification + + + Frequent (79-30%) + + + + + + HP:0000218 + High palate + + + Occasional (29-5%) + + + + + + HP:0000307 + Pointed chin + + + Occasional (29-5%) + + + + + + HP:0000324 + Facial asymmetry + + + Occasional (29-5%) + + + + + + HP:0000358 + Posteriorly rotated ears + + + Occasional (29-5%) + + + + + + HP:0000384 + Preauricular skin tag + + + 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Underfolded helix + + + Occasional (29-5%) + + + + + + HP:0009896 + Abnormality of the antitragus + + + Occasional (29-5%) + + + + + + HP:0012368 + Flat face + + + Occasional (29-5%) + + + + + + HP:0100559 + Lower limb asymmetry + + + Occasional (29-5%) + + + + + + HP:0000164 + Abnormality of the dentition + + + Very rare (<4-1%) + + + + + + HP:0000470 + Short neck + + + Very rare (<4-1%) + + + + + + HP:0000486 + Strabismus + + + Very rare (<4-1%) + + + + + + HP:0001891 + Iron deficiency anemia + + + Very rare (<4-1%) + + + + + + HP:0002659 + Increased susceptibility to fractures + + + Very rare (<4-1%) + + + + + + HP:0002866 + Hypoplastic iliac wing + + + Very rare (<4-1%) + + + + + + HP:0004349 + Reduced bone mineral density + + + Very rare (<4-1%) + + + + + + HP:0005743 + Avascular necrosis of the capital femoral epiphysis + + + Very rare (<4-1%) + + + + + + HP:0007906 + Ocular hypertension + + + Very rare (<4-1%) + + + + + + HP:0008440 + C1-C2 vertebral abnormality + + + Very rare 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HP:0000622 + Blurred vision + + + Occasional (29-5%) + + + + + + HP:0000639 + Nystagmus + + + Occasional (29-5%) + + + + + + HP:0000651 + Diplopia + + + Occasional (29-5%) + + + + + + HP:0000716 + Depressivity + + + Occasional (29-5%) + + + + + + HP:0000734 + Disinhibition + + + Occasional (29-5%) + + + + + + HP:0000737 + Irritability + + + Occasional (29-5%) + + + + + + HP:0000745 + Diminished motivation + + + Occasional (29-5%) + + + + + + HP:0000818 + Abnormality of the endocrine system + + + Occasional (29-5%) + + + + + + HP:0000933 + Posterior fossa cyst at the fourth ventricle + + + Occasional (29-5%) + + + + + + HP:0001123 + Visual field defect + + + Occasional (29-5%) + + + + + + HP:0001250 + Seizures + + + Occasional (29-5%) + + + + + + HP:0001269 + Hemiparesis + + + Occasional (29-5%) + + + + + + HP:0001288 + Gait disturbance + + + Occasional (29-5%) + + + + + + HP:0001293 + Cranial nerve compression + + + Occasional (29-5%) + + + + + + HP:0001317 + Abnormal cerebellum 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(29-5%) + + + + + + HP:0003401 + Paresthesia + + + Occasional (29-5%) + + + + + + HP:0003418 + Back pain + + + Occasional (29-5%) + + + + + + HP:0003698 + Difficulty standing + + + Occasional (29-5%) + + + + + + HP:0004396 + Poor appetite + + + Occasional (29-5%) + + + + + + HP:0005324 + Disturbance of facial expression + + + Occasional (29-5%) + + + + + + HP:0006824 + Cranial nerve paralysis + + + Occasional (29-5%) + + + + + + HP:0007086 + Social and occupational deterioration + + + Occasional (29-5%) + + + + + + HP:0007291 + Posterior fossa cyst + + + Occasional (29-5%) + + + + + + HP:0007340 + Lower limb muscle weakness + + + Occasional (29-5%) + + + + + + HP:0009745 + Spinalarachnoid cyst + + + Occasional (29-5%) + + + + + + HP:0010303 + Abnormal spinal meningeal morphology + + + Occasional (29-5%) + + + + + + HP:0010628 + Facial palsy + + + Occasional (29-5%) + + + + + + HP:0011499 + Mydriasis + + + Occasional (29-5%) + + + + + + HP:0011868 + Sciatica + + + Occasional (29-5%) + + 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