Disease #04659 (ISS (stature, short, idiopathic familial (ISS)), OMIM:300582)

Official abbreviation ISS
Name stature, short, idiopathic familial (ISS)
OMIM ID 300582
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 271
Phenotype entries for this disease 237
Associated with 1 gene SHOX
Associated tissues -
Disease features -
Remarks -


Individuals

271 entries on 3 pages. Showing entries 1 - 100.
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00050134 - - - F no United States Jewish - 0 - - ISS father shorter (5ft 6in) than his brother and father (5ft 10in) SHOX SHOX 1 1 Johan den Dunnen
00080753 - - - F no (Brazil) - - 0 - - ISS - GHR, SHOX GHR 1 1 Robert Pogue
00115074 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 20 Ralph Roeth
00115080 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115081 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 3 Ralph Roeth
00115086 - PubMed: Huber 2006 inheritance familial, found in affected mother M - France white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 2 Ralph Roeth
00115090 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115091 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 2 Ralph Roeth
00115092 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115093 - SHOX Lab Heidelberg, unpublished - - - Germany white - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115094 - Esoterix, unpublished - - - (United States) - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115096 - PubMed: Rappold 2002 found in unaffected father - - Japan Asian - 0 - - ISS short stature, idiopathic (ISS) (normal) SHOX SHOX 1 2 Ralph Roeth
00115098 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115100 - PubMed: Rappold 2002 - - - Japan Asian - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 2 Ralph Roeth
00115101 - Silvia C. Souza, Sao Paulo, Brazil, unpublished - - - Brazil - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115102 - PubMed: Rappold 2002 - - - Germany white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115104 - SHOX Lab Heidelberg, unpublished - - - Russia white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115105 - SHOX Lab Heidelberg, unpublished - - - Germany white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115106 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 4 Ralph Roeth
00115110 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115113 - SHOX Lab Heidelberg, unpublished - - - Spain white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115115 - SHOX Lab Heidelberg, unpublished - - - Germany white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115116 - Esoterix, unpublished - - - (United States) - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 8 Ralph Roeth
00115119 - SHOX Lab Heidelberg, unpublished - - - Turkey white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115121 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115126 - PubMed: Rappold 2007 inheritance familial, father, 2 sisters and brother affected - - Turkey white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 4 Ralph Roeth
00115127 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115129 - PubMed: Rappold 2007 - - - France white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115134 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115143 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115144 - SHOX Lab Heidelberg, unpublished - - - Czech Republic white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115145 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 2 Ralph Roeth
00115146 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 2 Ralph Roeth
00115150 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115151 - PubMed: Schneider 2005 inheritance familial, father and sister affected - - Croatia (Hrvatska) white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 3 Ralph Roeth
00115152 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115153 - PubMed: A.A.L. Jorge 2006 - - - Brazil - - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115154 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 8 Ralph Roeth
00115156 - Esoterix, unpublished - - - - - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115159 - SHOX Lab Heidelberg, unpublished - - - Czech Republic white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115162 - PubMed: Stuppia 2003 inheritance familial, found in affected mother - - Italy white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 2 Ralph Roeth
00115163 - PubMed: Stuppia 2003 - - - Italy white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115164 - PubMed: Stuppia 2003 - - - Italy white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115169 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115170 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115173 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115174 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115175 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 2 Ralph Roeth
00115177 - SHOX Lab Heidelberg, unpublished inheritance 1 familial and 2 unknown cases - - Czech Republic;France;Hungary white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 3 Ralph Roeth
00115179 - PubMed: Rappold 2007 - - - Poland white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115180 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115181 - PubMed: Huber 2006 - - - France white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115184 - PubMed: Schneider 2005 - - - Turkey white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115185 - PubMed: Schneider 2005 inheritance familial, found in 3 affectes - - Japan Asian - 0 - - ISS short stature SHOX SHOX 1 3 Ralph Roeth
00115186 - PubMed: Schneider 2005 - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 3 Ralph Roeth
00115188 - PubMed: Rappold 2007 inheritance familial, found in father - - France white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 2 Ralph Roeth
00115189 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115191 - PubMed: Sabherwal 2004 PubMed: Schneider 2005 - - - Spain white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115194 - PubMed: Sabherwal 2004 PubMed: Schneider 2005 - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 3 Ralph Roeth
00115198 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115200 - SHOX Lab Heidelberg, unpublished - - - Croatia (Hrvatska) white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115201 - SHOX Lab Heidelberg, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 3 Ralph Roeth
00115202 - SHOX Lab Heidelberg, unpublished - - - Germany white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115203 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 4 Ralph Roeth
00115204 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115205 - PubMed: Rao 1997 3-generation family, 5 affecteds - - Germany white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 5 Ralph Roeth
00115206 - PubMed: Rappold 2002 - - - Japan Asian - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115212 - Esoterix, unpublished - - - - - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 2 Ralph Roeth
00115214 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115216 - PubMed: Shanske 2006 inheritance familial, found in affected mother M - Ecuador white - 0 - - ISS short stature, idiopathic (ISS), Madelung deformity (MD) SHOX SHOX 1 2 Ralph Roeth
00115217 - Carol Pitore, pers. comm. - - - - - - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115218 - Esoterix, unpublished - - - (United States) - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115220 - PubMed: Sofia Shapiro 2015 - - - United States - - 0 - - ISS - SHOX SHOX 1 1 Ralph Roeth
00115221 - Silvia C. Souza, Sao Paulo, Brazil, unpublished - - - Brazil - - 0 - - ISS - SHOX SHOX 1 1 Ralph Roeth
00115223 - PubMed: Huber 2006 - - - France white - 0 - - ISS - SHOX SHOX 1 1 Ralph Roeth
00115224 - PubMed: Rappold 2002 inheritance familial, found in unaffected mother F - Japan Asian - 0 - - ISS - SHOX SHOX 1 2 Ralph Roeth
00115225 - Esoterix, unpublished - - - Russia white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115226 - PubMed: Rappold 2002 - - - Germany white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115227 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115228 - PubMed: Rappold 2007 - - - Canada white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115229 - Esoterix, unpublished - - - - - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 4 Ralph Roeth
00115232 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115233 - SHOX Lab Heidelberg, unpublished - - - France white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115235 - PubMed: Huber 2006 - - - France white - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115236 - Esoterix, unpublished - - - United States - - 0 - - ISS - SHOX SHOX 1 1 Ralph Roeth
00115240 - SHOX Lab Heidelberg, unpublished - - - Germany white - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115242 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115243 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 2 Ralph Roeth
00115244 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 35 Ralph Roeth
00115249 - PubMed: Ross 2005; K. H., unpublished inheritance familial, found in affected mother - - United States - - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 2 Ralph Roeth
00115252 - S.G. Kant, Leiden, NL, pers. comm. - - - Netherlands - - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115256 - PubMed: Messina 2008 - - no Italy white - 0 - - ISS short stature, idiopathic (ISS); Becker muscular dystrophy (BMD) SHOX SHOX 1 1 Ralph Roeth
00115269 - Simon Thomas, Salisbury, UK, unpublished - - - (United Kingdom (Great Britain)) - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115274 - Dr. Moran, United States, pers. comm. - - - United States - - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 1 Ralph Roeth
00115286 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115287 - PubMed: A.A.L. Jorge 2006 3-generation family, 14 affecteds (7F, 7M) F no Brazil - - 0 - - ISS short stature, idiopathic (ISS) SHOX SHOX 1 14 Ralph Roeth
00115289 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115290 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115292 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 1 Ralph Roeth
00115294 - Esoterix, unpublished - - - - - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) SHOX SHOX 1 2 Ralph Roeth
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